[Modifier genes and cystic fibrosis].
Cystic fibrosis is the most common lethal autosomal recessive disease among the Caucasian population. It is caused by defects in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator). Although over 1600 disease-causing mutations in the CFTR gene have been described, the highly variable disease phenotype in cystic fibrosis cannot be explained on the basis of this gene alone. Both the environment and other non-CFTR genes are likely to be important. The increased understanding of pathophysiological processes in the cystic fibrosis lung has led to several studies on genes in these pathways. One of the major aims of such studies is to produce targets for novel drug developments.
Corvol
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H
Service de pneumologie pédiatrique, hôpital Armand-Trousseau, Assistance publique-Hôpitaux de Paris, 26, avenue du Docteur-A.-Netter, 75012 Paris, France. harriet.corvol@trs.ap-hop-paris.fr
Flamant
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C
Vallet
C
C
Clement
A
A
Brouard
J
J
D002648:Child; D003550:Cystic Fibrosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic
D019005:Cystic Fibrosis Transmembrane Conductance Regulator