title: A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
authors.affiliation: Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: C
authors.initials: C
authors.lastname: Cazeneuve
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: D
authors.initials: D
authors.lastname: Dusser
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: D
authors.initials: D
authors.lastname: Hubert
mesh_terms: D000328:Adult; D001483:Base Sequence; D003062:Codon; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005796:Genes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D003062:Codon; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator