Article
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).
BMC pediatrics - 3 Jan 2020
Rosa Joana, Gaspar-Silva Patrícia, Pacheco Paula, Silva Conceição, Branco Cláudia C, Vieira Barbara S, Carreiro Alexandra, Gonçalves Juan, Mota-Vieira Luisa
Abstract excerpt
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 populations. METHODS: We performed a retrospective cross-sectional study of CF patients from the island of São...
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