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Article

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal of the American Society of Nephrology : JASN - 1 May 2012

Rossetti Sandro, Hopp Katharina, Sikkink Robert A, Sundsbak Jamie L, Lee Yean Kit, Kubly Vickie, Eckloff Bruce W, Ward Christopher J, Winearls Christopher G, Torres Vicente E, Harris Peter C

Abstract excerpt

Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1-32 as six pseudogenes on chromosome 16, the high level of allelic heterogeneity, and the cost of Sanger sequencing complicate mutation analysis, which can aid diagnostics of ADPKD. We developed and validated a strategy to analyze both the PKD1 and PKD2 genes using...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polycystic Kidney, Autosomal Dominant

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Source

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Identifiers

PMID: 22383692
DOI: 10.1681/ASN.2011101032
PMCID: PMC3338301

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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