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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Bibliographische Detailangaben
Veröffentlicht in:J Am Soc Nephrol
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Nephrology 2014
Schlagworte:
Basic Research
Online Zugang: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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