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Article

A missense mutation in PKD1 attenuates the severity of renal disease.

Kidney international - 1 Feb 2012

Pei York, Lan Zheng, Wang Kairong, Garcia-Gonzalez Miguel, He Ning, Dicks Elizabeth, Parfrey Patrick, Germino Gregory, Watnick Terry

Abstract excerpt

Mutations of PKD1 and PKD2 account for most cases of autosomal dominant polycystic kidney disease (ADPKD). Compared with PKD2, patients with PKD1 typically have more severe renal disease. Here, we report a follow-up study of a unique multigeneration family with bilineal ADPKD (NFL10) in which a PKD1 disease haplotype and a PKD2 (L736X) mutation co-segregated with 18 and 14 affected individuals, respectively. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22031115
DOI: 10.1038/ki.2011.370
PMCID: PMC4105019

Genes

PKD1
PKD2

Variants

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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