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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Dades bibliogràfiques
Publicat a:J Am Soc Nephrol
Autors principals: 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
Idioma:Inglês
Publicat: American Society of Nephrology 2014
Matèries:
Basic Research
Accés en línia: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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