Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

BACKGROUND: Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). There are over 2000 different pathogenic and non‐pathogenic variants described in association with a broad clinical heterogeneity. The most common types of mutations in thi...

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Detalles Bibliográficos
Autores principales: Martins, Raisa da Silva, Campos Junior, Mario, dos Santos Moreira, Aline, Marques Zembrzuski, Verônica, da Fonseca, Ana Carolina Proença, Abreu, Gabriella de Medeiros, Cabello, Pedro Hernan, de Cabello, Giselda Maria Kalil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625342/
https://www.ncbi.nlm.nih.gov/pubmed/31199594
http://dx.doi.org/10.1002/mgg3.645

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