Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies

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 pediatr...

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Bibliografiska uppgifter

Huvudupphov:	Juliana Roda, Teresa Teixeira, Iris AI Silva, Teresa Reis Silva, Ricardo Ferreira, Margarida D. Amaral, Guiomar Oliveira
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Elsevier 2022-03-01
Serie:	Jornal de Pediatria
Ämnen:	Mutations Clinical manifestations Ivacaftor Tezacaftor Lumacaftor Elexacaftor
Länkar:	http://www.sciencedirect.com/science/article/pii/S0021755721000942
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