title: [Direct genetic diagnosis in cystic fibrosis].
abstract: The recent cloning of the cystic fibrosis gene and the simultaneous identification of the predominant mutation enabled direct gene diagnosis in the majority of all CF families. We demonstrate the superiority of now available direct genotyping in five individual cases.
authors.affiliation: Institut für Humangenetik, Universitätskliniken Göttingen.
authors.forename: J
authors.initials: J
authors.lastname: Reiss
authors.forename: M
authors.initials: M
authors.lastname: Schlösser
authors.forename: M
authors.initials: M
authors.lastname: Wagner
authors.forename: U
authors.initials: U
authors.lastname: Lenz
authors.forename: M
authors.initials: M
authors.lastname: Krawczak
authors.forename: G
authors.initials: G
authors.lastname: Ammann
authors.forename: S
authors.initials: S
authors.lastname: Klösser
authors.forename: B
authors.initials: B
authors.lastname: Böwing
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes; D005819:Genetic Markers
vernacular_title: Direkte Gendiagnostik bei zystischer Fibrose.