Article
Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.
Molecular genetics & genomic medicine - 1 Nov 2017
Ortiz Sofía C, Aguirre Santiago J, Flores Sofía, Maldonado Claudio, Mejía Juan, Salinas Lilian
Abstract excerpt
BACKGROUND: High heterogeneity in the CFTR gene mutations disturbs the molecular diagnosis of cystic fibrosis (CF). In order to improve the diagnosis of CF in our country, the present study aims to define a panel of common CFTR gene mutations by sequencing 27 exons of the gene in Ecuadorian Cystic Fibrosis patients. METHODS: Forty-eight Ecuadorian individuals with suspected/confirmed CF diagnosis were included....
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