Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal rece...

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Vydáno v:J Am Soc Nephrol
Hlavní autoři: Morinière, Vincent, Dahan, Karin, Hilbert, Pascale, Lison, Marieline, Lebbah, Said, Topa, Alexandra, Bole-Feysot, Christine, Pruvost, Solenn, Nitschke, Patrick, Plaisier, Emmanuelle, Knebelmann, Bertrand, Macher, Marie-Alice, Noel, Laure-Hélène, Gubler, Marie-Claire, Antignac, Corinne, Heidet, Laurence
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2014
Témata:
Basic Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4243343/
https://ncbi.nlm.nih.gov/pubmed/24854265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013080912
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