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Article

Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients.

Journal of medical genetics - 1 Feb 1998

Verlingue C, Vuillaumier S, Mercier B, Le Gac M, Elion J, Férec C, Denamur E

Abstract excerpt

This study was aimed at testing if a 5.2 kb untranslated region on both sides of the first CFTR exon, shown to contain regulatory elements, could carry mutations responsible for cystic fibrosis (CF) or CF related phenotypes. Selection of the DNA segments studied within this region was based upon the identification of conserved sequences throughout evolution (phylogenetic footprints, PFs). Comparison of the CFTR...

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Identifiers

PMID: 9507393
DOI: 10.1136/jmg.35.2.137
PMCID: PMC1051218

Genes

CFTR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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