title: In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene.
authors.affiliation: Abteilung für Pädiatrische Genetik, Kinderpoliklinik, Universität München, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: A
authors.initials: A
authors.lastname: Golla
authors.forename: C
authors.initials: C
authors.lastname: Dörner
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: D
authors.initials: D
authors.lastname: Reinhardt
authors.forename: T
authors.initials: T
authors.lastname: Deufel
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D009692:Nucleic Acid Heteroduplexes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA