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Article

CFTR H609R mutation in Ecuadorian patients with cystic fibrosis.

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

Moya-Quiles María Rosa, Glover Guillermo, Mondéjar-López Pedro, Pastor-Vivero María Dolores, Fernández-Sánchez Asunción, Sánchez-Solís Manuel

Abstract excerpt

Mutation epidemiology in each ethnic group is important for cystic fibrosis diagnosis and genetic counselling. To date, little has been reported on the prevalence of cystic fibrosis in the Ecuadorian population where the mutation distribution appears to differ from that of Europe. We present a series of four Ecuadorian patients homozygous for the H609R mutation in the CFTR gene. This is the first report of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19457724
DOI: 10.1016/j.jcf.2009.05.001

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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