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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Detalles Bibliográficos
Publicado en:J Am Soc Nephrol
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Nephrology 2014
Materias:
Basic Research
Acceso en línea: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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