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A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)

BACKGROUND: Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across...

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Detalles Bibliográficos
Autores principales: Rosa, Joana, Gaspar-Silva, Patrícia, Pacheco, Paula, Silva, Conceição, Branco, Cláudia C., Vieira, Barbara S., Carreiro, Alexandra, Gonçalves, Juan, Mota-Vieira, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942372/
https://www.ncbi.nlm.nih.gov/pubmed/31900120
http://dx.doi.org/10.1186/s12887-019-1903-y