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Article

Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.

Clinical journal of the American Society of Nephrology : CJASN - 1 Feb 2009

Wang Kiarong, Zhao Xiao, Chan Shelly, Cil Onur, He Ning, Song Xuewen, Paterson Andrew D, Pei York

Abstract excerpt

BACKGROUND AND OBJECTIVES: Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by locus and allelic heterogeneity, large multi-exon gene structure and duplication in PKD1, and a high level of unclassified variants. Comprehensive screening of PKD1 and PKD2 by two recent studies have shown that atypical splice mutations account for 3.5% to 5% of ADPKD. We...

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Source

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Identifiers

PMID: 19158373
DOI: 10.2215/CJN.00980208
PMCID: PMC2637591

Genes

PKD2
PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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