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Article

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.

Human mutation - 1 Jan 1995

Varon R, Stuhrmann M, Macek M, Kufardjieva A, Angelicheva D, Magdorf K, Jordanova A, Savov A, Wahn U, Macek M

Abstract excerpt

Cystic fibrosis (CF) is caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) that codes for a cAMP-regulated chloride channel. The R347P is a missense mutation located within the first membrane spanning domain (MSD1) of the CFTR protein. This mutation occurs with an overall worldwide frequency of about 0.2%. The patients, originally described with this mutation were...

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Source

Identifiers

PMID: 8535440
DOI: 10.1002/humu.1380060304

Genes

CFTR

Provenance

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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