title: A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
abstract: A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.
authors.affiliation: Institut für Humangenetik, Universität Göttingen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Schloesser
authors.forename: S
authors.initials: S
authors.lastname: Arleth
authors.forename: U
authors.initials: U
authors.lastname: Lenz
authors.forename: R M
authors.initials: RM
authors.lastname: Bertele
authors.forename: J
authors.initials: J
authors.lastname: Reiss
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D004247:DNA; D004252:DNA Mutational Analysis; D005858:Germany; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D004247:DNA