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Article

Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.

Journal of hepatology - 1 Aug 2002

Girodon Emmanuelle, Sternberg Damien, Chazouillères Olivier, Cazeneuve Cécile, Huot Danielle, Calmus Yvon, Poupon Raoul, Goossens Michel, Housset Chantal

Abstract excerpt

BACKGROUND/AIMS: Because biliary tract lesions that resemble those of primary sclerosing cholangitis (PSC) may occur in cystic fibrosis (CF), we examined the prevalence and influence of CF transmembrane conductance regulator (CFTR) gene mutations in PSC patients. METHODS: Genomic DNA was analyzed in 29 consecutive PSC patients and in 115 healthy control individuals. A scanning method followed by direct DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12127423
DOI: 10.1016/s0168-8278(02)00161-7

Genes

CFTR

Variants

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.

Related research

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Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.PMID 12127423Read ↗

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Primary sclerosing cholangitis is associated with abnormalities in CFTR.Semantic proximity Read ↗

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CC-type chemokine receptor 5-Delta32 mutation protects against primary sclerosing cholangitis.Semantic proximity Read ↗

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