Article
Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation.
Pediatric research - 1 Nov 2002
Sermet-Gaudelus Isabelle, Vallée Benoit, Urbin Ilse, Torossi Tania, Marianovski Rémi, Fajac Anne, Feuillet Marie-Noëlle, Bresson Jean-Louis, Lenoir Gérard, Bernaudin Jean François, Edelman Aleksander
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations of the gene encoding for the CFTR (CF transmembrane conductance regulator) protein. The most frequent mutation, the (Delta)F508 mutation, results in a defective cAMP-regulated chloride transport in the epithelial cells. The spectrum of clinical manifestations in patients bearing homozygous (Delta)F508 mutations can vary considerably, suggesting that, in the patients...
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