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Article

Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis.

Annales de biologie clinique - 1 Feb 2021

Nefzi Malek, Fredj Sondess Hadj, Dabboubi Rym, Hamouda Samia, Tebib Neji, Boussetta Khedija, Messaoud Taieb

Abstract excerpt

BACKGROUND & OBJECTIVES: Cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane regulator (CFTR) protein, a chloride channel located in the epithelial cell membrane. Over than 2,000 CFTR mutations have been identified, which contribute to the variety of clinical phenotypes of CF. We performed a case-control study to determine p.Met470Val (M470V), p.Thr854= (T854) and p.Gln1463=...

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PMID: 33589413
DOI: 10.1684/abc.2021.1614

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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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