Type of PKD1 Mutation Influences Renal Outcome in ADPKD

Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as phenotypic variability. The genotype-phenotype relationship in ADPKD is not completely understood. Here, we studied 741 patients with ADPKD from 519 pedigrees in the Genky...

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Главные авторы: Cornec-Le Gall, Emilie, Audrézet, Marie-Pierre, Chen, Jian-Min, Hourmant, Maryvonne, Morin, Marie-Pascale, Perrichot, Régine, Charasse, Christophe, Whebe, Bassem, Renaudineau, Eric, Jousset, Philippe, Guillodo, Marie-Paule, Grall-Jezequel, Anne, Saliou, Philippe, Férec, Claude, Le Meur, Yannick
Формат: Artigo
Язык:Inglês
Опубликовано: American Society of Nephrology 2013
Предметы:
Clinical Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3665389/
https://ncbi.nlm.nih.gov/pubmed/23431072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2012070650
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