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Article

Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.

Human mutation - 1 Aug 2006

Waanders Esmé, te Morsche René H M, de Man Rob A, Jansen Jan B M J, Drenth Joost P H

Abstract excerpt

Autosomal dominant polycystic liver disease (PCLD) is characterized by progressive development of multiple (> 20) liver cysts. Two separate genes, PRKCSH and SEC63, have been identified to cause familial PCLD. We designed this study with two goals: to assess the relative contribution of PRKCSH and SEC63 mutations in a cohort of unrelated patients with a variable number of liver cysts, and to assess the effect of...

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Source

Identifiers

PMID: 16835903
DOI: 10.1002/humu.9441

Genes

PRKCSH
SEC63

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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Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.PMID 16835903Read ↗

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