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Article

Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Sept 2002

Cohn Jonathan A, Noone Peadar G, Jowell Paul S

Abstract excerpt

Idiopathic chronic pancreatitis (ICP) is the leading cause of nonalcoholic chronic pancreatitis. This study examined a series of patients with ICP to determine the prevalence and role of mutations of the cystic fibrosis gene (CFTR) and of a trypsin inhibitor gene (PSTI). Genetic testing was done in 39 patients with ICP. In this series, 17 patients had CFTR mutations and 9 had PSTI mutations. Pancreatitis risk was...

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Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genetic Linkage

Share to Genetic Testing

Share to Pancreatitis

Share to Repressor Proteins

Share to Saccharomyces cerevisiae Proteins

Source

Identifiers

PMID: 12227654
DOI: 10.1136/jim-50-suppl5-01

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.

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