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Article

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.

European journal of human genetics : EJHG - 1 Jul 2000

Badenas C, Torra R, Pérez-Oller L, Mallolas J, Talbot-Wright R, Torregrosa V, Darnell A

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest genetic diseases in man, affecting 1:1000 individuals in the Caucasian population. It is caused by mutations in the PKD1 or PKD2 genes. Recently, controversial data regarding the mutational mechanism underlying cyst initiation have been reported: genetic analyses have shown that second somatic mutations may lead to cyst formation...

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Share to Chromosomes, Human, Pair 16
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10909847
DOI: 10.1038/sj.ejhg.5200484

Genes

PKD1
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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