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Article

Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effect.

Mutation research - 1 May 2015

Pizzo Lucilla, Iriarte Andrés, Alvarez-Valin Fernando, Marín Mónica

Abstract excerpt

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system, with a prevalence of about 1:3000 people. Cystic fibrosis is caused by mutations in CFTR gene, which lead to a defective function of the chloride channel, the cystic fibrosis transmembrane conductance regulator (CFTR). Up-to-date, more than 1900 mutations have been reported in CFTR. However for an important proportion of...

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Identifiers

PMID: 25839760
DOI: 10.1016/j.mrfmmm.2015.03.005

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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