Title : [Phenotypic variability of cystic fibrosis: case report of twins with F508/F508 mutation].

Pub. Date : 2014 Jul

PMID : 25697321






1 Functional Relationships(s)
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1 INTRODUCTION: Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutation in the CFTR gene, resulting in an alteration of a protein involved in sodium and chloride transport in the apical plasma membrane of epithelial cells in respiratory and intestinal tracts. Sodium CF transmembrane conductance regulator Homo sapiens