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Article

Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.

Clinical genetics - 1 Jul 2010

Waanders E, Venselaar H, te Morsche R H M, de Koning D B, Kamath P S, Torres V E, Somlo S, Drenth J P H

Abstract excerpt

Polycystic liver disease (PCLD) is characterized by intralobular bile duct cysts in the liver. It is caused by mutations in PRKCSH, encoding hepatocystin, and SEC63, encoding Sec63p. The main goals of this study were to screen for novel mutations and to analyze mutations for effects on protein st...

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Source

Open in PubMed Open full text

Identifiers

PMID: 20095989
DOI: 10.1111/j.1399-0004.2009.01353.x
PMCID: PMC4127811

Genes

PRKCSH
SEC63

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20095989-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.PMID 20095989Read ↗

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