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Article

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

Human mutation - 1 Aug 2012

Audrézet Marie-Pierre, Cornec-Le Gall Emilie, Chen Jian-Min, Redon Sylvia, Quéré Isabelle, Creff Joelle, Bénech Caroline, Maestri Sandrine, Le Meur Yann, Férec Claude

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder, is caused by mutations in PKD1 or PKD2. The molecular diagnosis of ADPKD is complicated by extensive allelic heterogeneity and particularly by the presence of six highly homologous sequences of PKD1 exons 1-33. Here, we screened PKD1 and PKD2 for both conventional mutations and gross genomic rearrangements in up to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Multiplex Polymerase Chain Reaction

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Share to Polycystic Kidney, Autosomal Dominant

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Source

Identifiers

PMID: 22508176
DOI: 10.1002/humu.22103

Genes

PKD1
PKD2

Provenance

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