Article
Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies.
Jornal de pediatria - 1 Jan 2000
Roda Juliana, Teixeira Teresa, Ai Silva Iris, Silva Teresa Reis, Ferreira Ricardo, Amaral Margarida D, Oliveira Guiomar
Abstract excerpt
OBJECTIVES: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal and to determine which ones are candidates for the new drugs...
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