title: Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.
authors.affiliation: Hôpital Debrousse, Lyon, France.
authors.forename: D
authors.initials: D
authors.lastname: Bozon
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
authors.forename: F
authors.initials: F
authors.lastname: Rininsland
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator