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Article

Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.

Human genetics - 1 Aug 2003

Sheth Sunil, Shea Julie C, Bishop Michele D, Chopra Sanjiv, Regan Meredith M, Malmberg Emily, Walker Carolyn, Ricci Ryan, Tsui Lap-Chee, Durie Peter R, Zielenski Julian, Freedman Steven D

Abstract excerpt

Primary sclerosing cholangitis (PSC) and cystic fibrosis (CF) are both slowly progressive cholestatic liver diseases characterized by fibro-obliterative inflammation of the biliary tract. We hypothesized that dysfunction of the CF gene product, cystic fibrosis transmembrane conductance regulator (CFTR), may explain why a subset of patients with inflammatory bowel disease develop PSC. We prospectively evaluated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12783301
DOI: 10.1007/s00439-003-0963-z

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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