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Article

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

American journal of human genetics - 1 Mar 2003

Li Airong, Davila Sonia, Furu Laszlo, Qian Qi, Tian Xin, Kamath Patrick S, King Bernard F, Torres Vicente E, Somlo Stefan

Abstract excerpt

Autosomal dominant polycystic liver disease (ADPLD) is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD). We previously studied two large kindreds and reported localization of a gene for ADPLD to an approximately 8-Mb region, flanked by markers D19S586/D19S583 and D19S593/D19S579, on chromosome 19p13.2-13.1. Expansion of these kindreds...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 19

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Share to Polycystic Kidney, Autosomal Dominant

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Source

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Identifiers

PMID: 12529853
DOI: 10.1086/368295
PMCID: PMC1180260

Genes

PRKCSH
PKD1
PKD2
PKHD1

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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