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CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.

Human mutation - 1 Sept 2003

Keyeux Genoveva, Rodas Clemencia, Bienvenu Thierry, Garavito Pilar, Vidaud Dominique, Sanchez Dora, Kaplan Jean-Claude, Aristizábal Gustavo

Abstract excerpt

Cystic Fibrosis is a worldwide distributed hereditary disease. The incidence of the main (p.F508del) and other frequent mutations has been determined in a great number of countries and ethnic groups, but its incidence in most Latin American countries has remained unknown until recently. It is now beginning to be recognized as a frequent cause of infant mortality, and some countries report the incidence of their...

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Source

Identifiers

PMID: 12938099
DOI: 10.1002/humu.9173

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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