title: Mutation analysis in 600 French cystic fibrosis patients.
abstract: The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of the patients. The most frequent mutations in this population after delta F508 (69% of the CF chromosomes) are G542X (3.3%), N1303K (1.8%), W1282X (1.5%), 1717-1G-->A (1.3%), 2184delA + 2183 A-->G (0.9%), and R553X (0.8%).
authors.affiliation: Centre d'Etudes des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
authors.forename: F
authors.initials: F
authors.lastname: Chevalier-Porst
authors.forename: A M
authors.initials: AM
authors.lastname: Bonardot
authors.forename: R
authors.initials: R
authors.lastname: Gilly
authors.forename: J P
authors.initials: JP
authors.lastname: Chazalette
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: D
authors.initials: D
authors.lastname: Bozon
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005091:Exons; D005602:France; D006239:Haplotypes; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D015342:DNA Probes; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator