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Article

A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.

Journal of medical genetics - 1 Jul 1997

Ariza M, Alvarez V, Marín R, Aguado S, López-Larrea C, Alvarez J, Menéndez M J, Coto E

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease. Most families show positive linkage to polymorphic markers around the PKD1 (16p13.3) or PKD2 (4q21-23) loci. The PKD1 and PKD2 genes have been cloned and mutations defined in a number of patients. Several clinical studies have described a milder phenotype for PKD2 patients. More recently, evidence for a third genetic...

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

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Share to Polymorphism, Restriction Fragment Length

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Source

Open in PubMed Open full text

Identifiers

PMID: 9222969
DOI: 10.1136/jmg.34.7.587
PMCID: PMC1051001

Genes

PKD2
PKD1

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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