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Article

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

European journal of human genetics : EJHG - 1 Feb 2010

Sanz Javier, von Känel Thomas, Schneider Mircea, Steiner Bernhard, Schaller André, Gallati Sabina

Abstract excerpt

Cystic fibrosis (CF) is one of the most common genetic diseases in the Caucasian population and is characterized by chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and chloride concentrations in the sweat and infertility in men. The disease is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which encodes a protein that functions as...

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Identifiers

PMID: 19724303
DOI: 10.1038/ejhg.2009.140
PMCID: PMC2987192

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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