Article
Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2011
Lay-Son Guillermo, Puga Alonso, Astudillo Pedro, Repetto Gabriela M
Abstract excerpt
BACKGROUND: CFTR gene mutations have worldwide differences in prevalence and data on Chilean patients is scarce. METHODS: We studied 36 of the most common CFTR mutations in Chilean patients from the CF National Program [Programa Nacional de Fibrosis Quística (PNFQ)] of the Ministry of Health of Chile. RESULTS: Two hundred and eighty-nine patients were studied. Fourteen different mutations were identified with an...
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