title: Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.
authors.affiliation: Abteilung für pädiatrische Genetik der Kinderpoliklinik, Ludwig-Maximilians-Universität München, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Golla
authors.forename: A
authors.initials: A
authors.lastname: Deufel
authors.forename: C
authors.initials: C
authors.lastname: Aulehla-Scholz
authors.forename: I
authors.initials: I
authors.lastname: Böhm
authors.forename: B
authors.initials: B
authors.lastname: Hilz
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: T
authors.initials: T
authors.lastname: Deufel
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005796:Genes / Q000235:genetics; D005820:Genetic Testing; D005858:Germany; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA