by Background: Congenital nephrotic syndrome, traditionally outlined by the onset of huge proteinuria throughout the first three months of life, is a uncommon scientific dysfunction, typically with poor consequence. It’s brought on by pathogenic variants in genes related to this syndrome or by fetal infections disrupting podocyte and/or glomerular basement membrane integrity. Right here we describe an toddler with congenital CMV an infection and nephrotic syndrome that failed to reply to focused antiviral remedy. Case and literature survey spotlight the significance of the “tetrad” of scientific, virologic, histologic, and genetic workup to higher perceive the pathogenesis of CMV-associated congenital and childish nephrotic syndromes.
Case Presentation: A male toddler was referred at 9 weeks of life with progressive belly distention, scrotal edema, and vomiting. Being pregnant was sophisticated by oligohydramnios and pre-maturity (34 weeks). He was discovered to have nephrotic syndrome and anemia, regular platelet and white blood cell rely, no splenomegaly, and no syndromic options. Diagnostic workup revealed lively CMV an infection (optimistic CMV IgM/PCR in plasma) and decreased C3 and C4. Maternal anti-CMV IgG was optimistic, IgM detrimental. Kidney biopsy demonstrated focal mesangial proliferative and sclerosing glomerulonephritis with few fibrocellular crescents, interstitial T- and B-lymphocyte infiltrates, and fibrosis/tubular atrophy. Immunofluorescence was detrimental. Electron microscopy confirmed diffuse podocyte effacement, however no cytomegalic inclusions or endothelial tubuloreticular arrays. After four weeks of remedy with valganciclovir, plasma and urine CMV PCR have been detrimental, with out enchancment of the proteinuria. Sadly, the affected person succumbed to fulminant pneumococcal an infection at 7 months of age. Entire exome sequencing and focused gene evaluation recognized a novel homozygous, pathogenic variant (2071+1G>T) in NPHS1.
Literature Evaluate and Dialogue: The position of CMV an infection in remoted congenital nephrotic syndrome and the corresponding pathological modifications are nonetheless debated. A search of the literature recognized solely three earlier stories of infants with congenital nephrotic syndrome and proof of CMV an infection, who additionally underwent kidney biopsy and genetic research.
Conclusion: Full workup of congenital infections related to nephrotic syndrome is warranted for a greater understanding of their pathogenesis (“diagnostic triad” of viral, biopsy, and genetic research). Molecular testing is crucial for acute and long-term prognosis and remedy plan.
Present Standing of Diagnostic Testing for SARS-CoV-2 An infection and Future Developments: A Evaluate
The coronavirus illness 2019 (COVID-19) brought on by a novel coronavirus, SARS-CoV-2, has contaminated greater than 50.6 million people and induced over 1.2 million deaths globally, elevating a serious well being concern. Up to now, no particular antiviral remedy or vaccine for COVID-19 has been authorised by the Meals and Drug Administration (FDA). Extremely delicate and particular laboratory diagnostics are due to this fact crucial for controlling the quickly evolving COVID-19 pandemic and optimizing scientific care, an infection management, and public well being interventions. The FDA has issued emergency use authorization (EUA) for a whole bunch of COVID-19 diagnostic exams of various courses.
Whereas nucleic acid testing (NAT) reminiscent of RT-PCR stays the criterion commonplace for COVID-19 prognosis, serological antibody and antigen exams are more and more being developed. Exams based mostly on the novel RNA sensing strategies (e.g., SHERLOCK, DETECTR, and Toehold Change) are promising on account of their comparatively low value, excessive accuracy, and fast detection time. Diagnostic testing outcomes for SARS-CoV-2 needs to be interpreted with warning, since they rely closely on components reminiscent of viral load, virus replication, the supply and timing of pattern assortment, pattern extraction, and traits of varied testing strategies.
This evaluate goals to current the present standing of widespread diagnostic testing for SARS-CoV-2 an infection, evaluate the present regulatory necessities, and establish future instructions within the growth of improved diagnostics which can be extra correct, accessible, and fast.
Preimplantation Genetic Testing for a Chinese language Household With X-Linked Lymphoproliferative Syndrome Sort 1
Background: X-linked lymphoproliferative illness (XLP) is a uncommon major immunodeficiency dysfunction. We carried out experiments based mostly on two methods of preimplantation genetic testing (PGT) for a household with XLP brought on by a mutation in SH2D1A (c.191G > A).
Strategies: First, a single-cell polymerase chain response (PCR) protocol was established utilizing single lymphocytes. A nested PCR experiment was carried out with direct sequencing after entire genome amplification of single cells to evaluate the accuracy of the genetic prognosis. Embryos obtained after intracytoplasmic sperm injection have been biopsied on day three and detected utilizing the established single-cell PCR protocol. Within the second PGT cycle, focused subsequent technology sequencing (NGS) was carried out and the only nucleotide polymorphism (SNP) markers flanking SH2D1A have been chosen to find out the disease-carrying haplotype section in every embryo.
Consequence: Within the first PGT cycle, six embryos have been biopsied. Discounting an embryo from a single failed PCR experiment, 5 embryos have been recognized, together with three unaffected and two hemizygous. After PCR, one regular embryo was transferred when it was growing into an early blastocyst. Though the ultrasound pictures indicated a viable singleton being pregnant, the implantation was on the cesarean scar. Subsequently, a man-made abortion was carried out. Within the haplotyping cycle, six embryos have been recognized to have inherited a haplotype with out pathogenic mutations. After the embryo implantation course of failed twice, a profitable singleton being pregnant was established, and subsequently, a wholesome feminine youngster was born.
CP-74006 |
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| 530978 | MedKoo Biosciences | 500.0mg | EUR 350 |
CP-775146 |
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| 531747 | MedKoo Biosciences | 5.0mg | EUR 250 |
CP-640186 |
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| 9422-25 | Biovision | each | EUR 666 |
CP-640186 |
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| 9422-5 | Biovision | each | EUR 222 |
CP-466722 |
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| A8625-10 | ApexBio | 10 mg | EUR 136 |
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Description: ATM inhibitor,potent and reversible |
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CP-466722 |
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| A8625-5 | ApexBio | 5 mg | EUR 88 |
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Description: ATM inhibitor,potent and reversible |
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CP-466722 |
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| A8625-50 | ApexBio | 50 mg | EUR 374 |
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Description: ATM inhibitor,potent and reversible |
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CP-91149 |
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| A8403-10 | ApexBio | 10 mg | EUR 105 |
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Description: Selective inhibitor of glycogen phosphorylase |
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CP-91149 |
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| A8403-25 | ApexBio | 25 mg | EUR 210 |
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Description: Selective inhibitor of glycogen phosphorylase |
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CP-91149 |
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| A8403-5 | ApexBio | 5 mg | EUR 63 |
|
Description: Selective inhibitor of glycogen phosphorylase |
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Coelenterazine CP |
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| 10112 | Biotium | 50uG | EUR 77 |
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Description: N/A |
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Coelenterazine CP |
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| 10112-1 | Biotium | 1MG | EUR 77 |
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Description: N/A |
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Coelenterazine CP |
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| 10112-1-1 | Biotium | EA | EUR 831 |
Coelenterazine CP |
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| 10112-2 | Biotium | 250uG | EUR 257 |
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Description: N/A |
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Coelenterazine CP |
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| 10112-2-1 | Biotium | EA | EUR 257 |
CP-690550 |
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| 1622-25 | Biovision | each | EUR 738 |
CP-690550 |
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| 1622-5 | Biovision | each | EUR 255.6 |
CP-609754 |
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| 206096 | MedKoo Biosciences | 10.0mg | EUR 450 |
CP-547632 |
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| 200810 | MedKoo Biosciences | 5.0mg | EUR 300 |
CP-724714 |
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| 200820 | MedKoo Biosciences | 5.0mg | EUR 250 |
CP-346086 |
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| 471083 | MedKoo Biosciences | 5.0mg | EUR 270 |
CP-335963 |
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| 471085 | MedKoo Biosciences | 1.0g | EUR 170 |
CP-101537 |
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| 471091 | MedKoo Biosciences | 10.0mg | EUR 90 |
CP Antibody |
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| 46543 | SAB | 100ul | EUR 319 |
CP Antibody |
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| 46543-100ul | SAB | 100ul | EUR 302.4 |
CP Antibody |
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| 45875-100ul | SAB | 100ul | EUR 302.4 |
CP Antibody |
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| 45875-50ul | SAB | 50ul | EUR 224.4 |
CP 135807 |
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| 413313 | MedKoo Biosciences | 5.0mg | EUR 275 |
CP Antibody |
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| E046543 | EnoGene | 100μg/100μl | EUR 255 |
|
Description: Available in various conjugation types. |
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CP Antibody |
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| DF9369 | Affbiotech | 200ul | EUR 420 |
CP Antibody |
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| DF9369-100ul | Affinity Biosciences | 100ul | EUR 280 |
CP Antibody |
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| DF9369-200ul | Affinity Biosciences | 200ul | EUR 350 |
CP Antibody |
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| E19-9369-1 | EnoGene | 50ug/50ul | EUR 145 |
|
Description: Available in various conjugation types. |
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CP Antibody |
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| E19-9369-2 | EnoGene | 100ug/100ul | EUR 225 |
|
Description: Available in various conjugation types. |
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CP-466722 |
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| B1722-1 | Biovision | each | EUR 183.6 |
CP-466722 |
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| B1722-5 | Biovision | each | EUR 418.8 |
CP-547632 |
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| B2056-500 | Biovision | each | EUR 183.6 |
CP 135807 |
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| B7497-10 | ApexBio | 10 mg | EUR 270 |
|
Description: 5-HT1D receptor agonist |
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CP 135807 |
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| B7497-50 | ApexBio | 50 mg | EUR 1096 |
|
Description: 5-HT1D receptor agonist |
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CP 775146 |
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| B7609-10 | ApexBio | 10 mg | EUR 308 |
|
Description: PPARα agonist |
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CP 775146 |
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| B7609-50 | ApexBio | 50 mg | EUR 1234 |
|
Description: PPARα agonist |
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CP 80633 |
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| B7162-10 | ApexBio | 10 mg | EUR 258 |
|
Description: PDE4 inhibitor |
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CP 80633 |
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| B7162-50 | ApexBio | 50 mg | EUR 1019 |
|
Description: PDE4 inhibitor |
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CP 154526 |
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| B7185-1 | ApexBio | 1 mg | EUR 48 |
|
Description: CRF1 receptor antagonist |
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CP 154526 |
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| B7185-5 | ApexBio | 5 mg | EUR 78 |
|
Description: CRF1 receptor antagonist |
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CP 96345 |
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| B7213-10 | ApexBio | 10 mg | EUR 285 |
|
Description: NK1 receptor antagonist |
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CP 96345 |
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| B7213-50 | ApexBio | 50 mg | EUR 1163 |
|
Description: NK1 receptor antagonist |
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CP-424174 |
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| B2531-1 | Biovision | each | EUR 157.2 |
CP-424174 |
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| B2531-5 | Biovision | each | EUR 405.6 |
CP-544326 |
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| B1121-25 | Biovision | each | EUR 666 |
CP-544326 |
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| B1121-5 | Biovision | each | EUR 222 |
CP-724714 |
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| B1333-25 | Biovision | each | EUR 940.8 |
CP-724714 |
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| B1333-5 | Biovision | each | EUR 314.4 |
CP-673451 |
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| B1337-1 | Biovision | each | EUR 288 |
CP-673451 |
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| B1337-5 | Biovision | each | EUR 810 |
CP-673451 |
|||
| B2173-10 | ApexBio | 10 mg | EUR 180 |
|
Description: PDGFRα/β inhibitor,potent and selective |
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CP-673451 |
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| B2173-200 | ApexBio | 200 mg | EUR 1672 |
|
Description: PDGFRα/β inhibitor,potent and selective |
|||
CP-673451 |
|||
| B2173-5 | ApexBio | 5 mg | EUR 95 |
|
Description: PDGFRα/β inhibitor,potent and selective |
|||
CP-673451 |
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| B2173-5.1 | ApexBio | 10 mM (in 1mL DMSO) | EUR 128 |
|
Description: PDGFRα/β inhibitor,potent and selective |
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CP-673451 |
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| B2173-50 | ApexBio | 50 mg | EUR 543 |
|
Description: PDGFRα/β inhibitor,potent and selective |
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CP 316819 |
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| B5448-10 | ApexBio | 10 mg | EUR 298 |
|
Description: Selective glycogen phosphorylase inhibitor |
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CP 316819 |
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| B5448-50 | ApexBio | 50 mg | EUR 1185 |
|
Description: Selective glycogen phosphorylase inhibitor |
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CP 20961 |
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| B5474-10 | ApexBio | 10 mg | EUR 226 |
|
Description: non-immunogenic adjuvant |
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CP 20961 |
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| B5474-50 | ApexBio | 50 mg | EUR 952 |
|
Description: non-immunogenic adjuvant |
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CP-640186 |
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| B3585-10 | ApexBio | 10 mg | EUR 156 |
|
Description: isozyme-nonselective acetyl-CoA carboxylase (ACCase) inhibitor |
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CP-640186 |
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| B3585-2 | ApexBio | 2 mg | EUR 64 |
|
Description: isozyme-nonselective acetyl-CoA carboxylase (ACCase) inhibitor |
|||
CP-640186 |
|||
| B3585-5 | ApexBio | 5 mg | EUR 96 |
|
Description: isozyme-nonselective acetyl-CoA carboxylase (ACCase) inhibitor |
|||
CP-640186 |
|||
| B3585-50 | ApexBio | 50 mg | EUR 616 |
|
Description: isozyme-nonselective acetyl-CoA carboxylase (ACCase) inhibitor |
|||
CP-10447 |
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| C781200 | Toronto Research Chemicals | 10mg | EUR 201 |
|
Description: 843-93-6 |
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CP 96345 |
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| C781210 | Toronto Research Chemicals | 250mg | EUR 9200 |
|
Description: 132746-60-2 |
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(±)-CP 55940 |
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| C781225 | Toronto Research Chemicals | 0.5mg | EUR 1518 |
CP-141938 |
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| C781290 | Toronto Research Chemicals | 100mg | EUR 12800 |
|
Description: 182822-62-4 |
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CP-316819 |
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| C781300 | Toronto Research Chemicals | 10mg | EUR 356 |
CP-471474 |
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| C781305 | Toronto Research Chemicals | 5mg | EUR 86 |
|
Description: 210755-45-6 |
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CP-47497 |
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| C781310 | Toronto Research Chemicals | 10mg | EUR 69 |
(-)-CP-47947 |
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| C781325 | Toronto Research Chemicals | 25mg | EUR 31000 |
|
Description: 114753-51-4 |
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CP-775146 |
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| C781355 | Toronto Research Chemicals | 10mg | EUR 230 |
|
Description: 702680-17-9 |
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CP-91149 |
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| C781360 | Toronto Research Chemicals | 100mg | EUR 76 |
|
Description: 186392-40-5 |
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CP 724714 |
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| C781365 | Toronto Research Chemicals | 250mg | EUR 4500 |
|
Description: 383432-38-0 |
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CP-466722 |
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| C781395 | Toronto Research Chemicals | 10mg | EUR 1200 |
|
Description: 1080622-86-1 |
|||
CP-481715 |
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| C781405 | Toronto Research Chemicals | 100mg | EUR 9200 |
|
Description: 212790-31-3 |
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(+)-CP 55940 |
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| C781415 | Toronto Research Chemicals | 25mg | EUR 27000 |
|
Description: 83002-05-5 |
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CP 640186 |
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| C591780 | Toronto Research Chemicals | 100mg | EUR 4500 |
|
Description: 591778-68-6 |
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CP Antibody |
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| CAC09179-100ug | Biomatik Corporation | 100ug | EUR 314 |
CP Antibody |
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| CAC09179-50ug | Biomatik Corporation | 50ug | EUR 199.2 |
CP-226269 |
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| 513641 | MedKoo Biosciences | 5.0mg | EUR 275 |
CP-105696 |
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| 524768 | MedKoo Biosciences | 5.0mg | EUR 265 |
CP-55940 |
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| 524805 | MedKoo Biosciences | 10.0mg | EUR 600 |
CP 66713 |
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| 524810 | MedKoo Biosciences | 5.0mg | EUR 280 |
CP-471474 |
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| 524847 | MedKoo Biosciences | 10.0mg | EUR 295 |
CP-532623 |
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| 524851 | MedKoo Biosciences | 5.0mg | EUR 300 |
CP-673451 |
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| 524866 | MedKoo Biosciences | 5.0mg | EUR 350 |
CP-868388 |
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| 524879 | MedKoo Biosciences | 5.0mg | EUR 320 |
CP-91149 |
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| 524881 | MedKoo Biosciences | 10.0mg | EUR 240 |
CP-809101 |
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| A3330-10 | ApexBio | 10 mg | EUR 138 |
|
Description: 5-HT2C receptor agonist |
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CP-809101 |
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| A3330-50 | ApexBio | 50 mg | EUR 591 |
|
Description: 5-HT2C receptor agonist |
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CP-724714 |
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| A2412-100 | ApexBio | 100 mg | EUR 589 |
|
Description: HER2 inhibitor,potent and selective |
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CP-724714 |
|||
| A2412-25 | ApexBio | 25 mg | EUR 235 |
|
Description: HER2 inhibitor,potent and selective |
|||
CP-724714 |
|||
| A2412-5 | ApexBio | 5 mg | EUR 68 |
|
Description: HER2 inhibitor,potent and selective |
|||
CP-724714 |
|||
| A2412-5.1 | ApexBio | 10 mM (in 1mL DMSO) | EUR 74 |
|
Description: HER2 inhibitor,potent and selective |
|||
CP 471474 |
|||
| A4435-10 | ApexBio | 10 mg | EUR 201 |
|
Description: Broad spectrum MMP inhibitor |
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CP 471474 |
|||
| A4435-50 | ApexBio | 50 mg | EUR 842 |
|
Description: Broad spectrum MMP inhibitor |
|||
CP-380736 |
|||
| 561663 | MedKoo Biosciences | 5.0mg | EUR 255 |
CP-96345 |
|||
| 562171 | MedKoo Biosciences | 5.0mg | Ask for price |
CP siRNA |
|||
| 20-abx912716 | Abbexa |
|
|
CP siRNA |
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| 20-abx912717 | Abbexa |
|
|
CP Antibody |
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| 1-CSB-PA14599A0Rb | Cusabio |
|
|
|
Description: A polyclonal antibody against CP. Recognizes CP from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC; Recommended dilution: IHC:1:20-1:200 |
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CP-640186 |
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| T1889-10mg | TargetMol Chemicals | 10mg | Ask for price |
|
Description: CP-640186 |
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CP-640186 |
|||
| T1889-1g | TargetMol Chemicals | 1g | Ask for price |
|
Description: CP-640186 |
|||
CP-640186 |
|||
| T1889-1mg | TargetMol Chemicals | 1mg | Ask for price |
|
Description: CP-640186 |
|||
CP-640186 |
|||
| T1889-50mg | TargetMol Chemicals | 50mg | Ask for price |
|
Description: CP-640186 |
|||
CP-640186 |
|||
| T1889-5mg | TargetMol Chemicals | 5mg | Ask for price |
|
Description: CP-640186 |
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CP-724714 |
|||
| T4014-10mg | TargetMol Chemicals | 10mg | Ask for price |
|
Description: CP-724714 |
|||
CP-724714 |
|||
| T4014-1g | TargetMol Chemicals | 1g | Ask for price |
|
Description: CP-724714 |
|||
CP-724714 |
|||
| T4014-1mg | TargetMol Chemicals | 1mg | Ask for price |
|
Description: CP-724714 |
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CP-724714 |
|||
| T4014-50mg | TargetMol Chemicals | 50mg | Ask for price |
|
Description: CP-724714 |
|||
CP-724714 |
|||
| T4014-5mg | TargetMol Chemicals | 5mg | Ask for price |
|
Description: CP-724714 |
|||
CP-628006 |
|||
| T40386-10mg | TargetMol Chemicals | 10mg | Ask for price |
|
Description: CP-628006 |
|||
CP-628006 |
|||
| T40386-1g | TargetMol Chemicals | 1g | Ask for price |
|
Description: CP-628006 |
|||
CP-628006 |
|||
| T40386-1mg | TargetMol Chemicals | 1mg | Ask for price |
|
Description: CP-628006 |
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CP-628006 |
|||
| T40386-50mg | TargetMol Chemicals | 50mg | Ask for price |
|
Description: CP-628006 |
|||
CP-628006 |
|||
| T40386-5mg | TargetMol Chemicals | 5mg | Ask for price |
|
Description: CP-628006 |
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CP-610431 |
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| T40675-10mg | TargetMol Chemicals | 10mg | Ask for price |
|
Description: CP-610431 |
|||
CP-610431 |
|||
| T40675-1g | TargetMol Chemicals | 1g | Ask for price |
|
Description: CP-610431 |
|||
CP-610431 |
|||
| T40675-1mg | TargetMol Chemicals | 1mg | Ask for price |
|
Description: CP-610431 |
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CP-610431 |
|||
| T40675-50mg | TargetMol Chemicals | 50mg | Ask for price |
|
Description: CP-610431 |
|||
CP-610431 |
|||
| T40675-5mg | TargetMol Chemicals | 5mg | Ask for price |
|
Description: CP-610431 |
|||
CP Antibody |
|||
| ABD9369 | Nova Lifetech | 100ug | EUR 325 |
CP 471474 |
|||
| A4435-1 | ApexBio | 1mg | EUR 40 |
|
Description: Proteases|MMP |
|||
CP 471474 |
|||
| A4435-5 | ApexBio | 5mg | EUR 104 |
|
Description: Proteases|MMP |
|||
CP-724714 |
|||
| GW3270 | Glentham Life Sciences | 1mg | EUR 432.95 |
CP Antibody |
|||
| F50324-0.4ML | NSJ Bioreagents | 0.4 ml | EUR 322.15 |
|
Description: Ceruloplasmin is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II) transferrin to Fe(III) transferrin. Mutations in this protein cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. |
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CP-724714 |
|||
| MBS131447-100mg | MyBiosource | 100mg | EUR 1495 |
CP-91149 |
|||
| MBS131451-100mg | MyBiosource | 100mg | EUR 1065 |
CP-91149 |
|||
| MBS131451-500mg | MyBiosource | 500mg | EUR 2775 |
CP-547632 |
|||
| MBS131064-100mg | MyBiosource | 100mg | EUR 1065 |
CP-547632 |
|||
| MBS131064-500mg | MyBiosource | 500mg | EUR 2775 |
CP 640186 |
|||
| MBS130359-100mg | MyBiosource | 100mg | EUR 1065 |
CP 640186 |
|||
| MBS130359-500mg | MyBiosource | 500mg | EUR 2775 |
CP 673451 |
|||
| MBS132201-100mg | MyBiosource | 100mg | EUR 1065 |
CP 673451 |
|||
| MBS132201-500mg | MyBiosource | 500mg | EUR 2775 |
CP 724714 |
|||
| MBS132265-100mg | MyBiosource | 100mg | EUR 1065 |
CP 724714 |
|||
| MBS132265-500mg | MyBiosource | 500mg | EUR 2775 |
Conclusion: Focused NGS with haplotyping evaluation circumvents the laborious means of multiplex PCR and is extra seemingly to make sure diagnostic accuracy. Nonetheless, when a genetic recombination happens near the positioning of mutation, confirmed identification utilizing chosen SNP markers may be difficult.