Type of PKD1 Mutation Influences Renal Outcome in ADPKD

Cornec-Le Gall, Émilie; Audrézet, Marie‐Pierre; Chen, Jian‐Min; Hourmant, Maryvonne; Morin, Marie-Pascale; Perrichot, Régine; Charasse, Christophe; Whebe, B.; Renaudineau, E.; Jousset, Philippe; Guillodo, Marie-Paule; Grall-Jézéquel, Anne; Saliou, Philippe; Férec, Claude; Le Meur, Yannick

doi:10.1681/asn.2012070650

Public

Type of PKD1 Mutation Influences Renal Outcome in ADPKD

Published in Journal of the American Society of Nephrology • Feb 22, 2013

Authors:

Émilie Cornec-Le Gall

Marie‐Pierre Audrézet

Jian‐Min Chen

Abstract

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...

Subject

PKD1

Autosomal dominant polycystic kidney disease

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