Article
[Modifier genes and cystic fibrosis].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 2006
Corvol H, Flamant C, Vallet C, Clement A, Brouard J
Abstract excerpt
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...
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