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Article

Common mutations in Cuban cystic fibrosis patients.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2009

Collazo Teresa, Bofill Ana María, Clark Yulia, Hernández Yadira, Gómez Manuel, Rodríguez Fidel, Ramos María D, Giménez Javier, Casals Teresa, Rojo Manuel

Abstract excerpt

So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120+1G>A) taking into account the ethnic origin of the Cuban population which is mainly...

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Identifiers

PMID: 18938114
DOI: 10.1016/j.jcf.2008.09.004

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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