title: Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.
authors.affiliation: Laboratoire Pol-Bouin, INSERM U.314, C.H.R.U. Maison Blanche, Reims, France.
authors.forename: C
authors.initials: C
authors.lastname: Clavel
authors.forename: F
authors.initials: F
authors.lastname: Pennaforte
authors.forename: F
authors.initials: F
authors.lastname: Pigeon
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: P
authors.initials: P
authors.lastname: Birembaut
authors.forename: C
authors.initials: C
authors.lastname: Férec
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D005796:Genes / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator