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Article

Two novel mutations affecting the same splice site of PKD1 correlate with different phenotypes in ADPKD.

Renal failure - 1 Jun 2014

Yu Chaowen, Li Jing, Yuan Zhaojian, Liu Shan, Zou Lin

Abstract excerpt

Genetic heterogeneity is the main factor for significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD). PKD1 patients have more severe renal outcomes compared with PKD2 patients. Co-inheritance of a mutation in both genes is associated with more severe phenotypes than that found with either mutation alone. However, the genotype-phenotype relationship is far from clear in ADPKD....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polycystic Kidney, Autosomal Dominant

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Source

Identifiers

PMID: 24575920
DOI: 10.3109/0886022X.2014.890010

Genes

PKD1
DKK3
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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