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Article

CFTR gene mutations in sarcoidosis.

European journal of human genetics : EJHG - 1 Nov 2002

Schürmann Manfred, Albrecht Melanie, Schwinger Eberhard, Stuhrmann Manfred

Abstract excerpt

Sarcoidosis is a complex disease of multiorgan granulomatous inflammation. Genetic susceptibility is involved in the pathogenesis of the disorder. Two successive studies from Italy have shown a high frequency of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suffering from sarcoidosis. We have genotyped a panel of 63 families with two or more affected siblings for the...

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Source

Identifiers

PMID: 12404105
DOI: 10.1038/sj.ejhg.5200868

Genes

CFTR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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