Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants

The mutations in the CFTR gene found in patients with cystic fibrosis (CF) have geographic differences, but there are scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in a group of Venezuelan patients with CF. The 27 exons of th...

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Detalles Bibliográficos
Autores principales: Sánchez, Karen, de Mendonca, Elizabeth, Matute, Xiorama, Chaustre, Ismenia, Villalón, Marlene, Takiff, Howard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2016
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789841/
https://www.ncbi.nlm.nih.gov/pubmed/27022295
http://dx.doi.org/10.2147/TACG.S78241

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