Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation

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 F...

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Detalles Bibliográficos
Autores principales: Ortiz, Sofía C., Aguirre, Santiago J., Flores, Sofía, Maldonado, Claudio, Mejía, Juan, Salinas, Lilian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702561/
https://www.ncbi.nlm.nih.gov/pubmed/29178639
http://dx.doi.org/10.1002/mgg3.337

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