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Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Human genetics - 1 Aug 1991

Dörk T, Wulbrand U, Richter T, Neumann T, Wolfes H, Wulf B, Maass G, Tümmler B

Abstract excerpt

Three mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene were discovered in a pancreas-insufficient patient with cystic fibrosis (CF) who displayed an uncommon combination of almost normal chloride concentration in sweat tests and typical symptoms of gastrointestinal and pulmonary disease. The R553Q mutation was found on the maternal delta F508-CFTR gene. Codon 553 is located within...

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Identifiers

PMID: 1715308
DOI: 10.1007/BF00197165

Genes

CFTR

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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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