title: [Molecular biology in diagnosis and detection of deletion in Duchenne muscular dystrophy].
abstract: For the purpose of carrier identification and genetic counselling we investigated deletions of the Duchenne muscular dystrophy (DMD) gene in three families of patients with Duchenne muscular dystrophy. Using a limited number of probes of the DMD cDNA in Southern blots, we detected a deletion in only one patient. Additional methodology is necessary to warrant reliable identification of carriers and exact prenatal diagnosis.
authors.affiliation: II. Medizinische Universitätsklinik, Wien.
authors.forename: W
authors.initials: W
authors.lastname: Graninger
authors.forename: W
authors.initials: W
authors.lastname: Wintersberger
authors.forename: G
authors.initials: G
authors.lastname: Meron
authors.forename: J
authors.initials: J
authors.lastname: Smolen
authors.forename: K
authors.initials: K
authors.lastname: Toifl
authors.forename: W
authors.initials: W
authors.lastname: Vormittag
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D015342:DNA Probes; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015342:DNA Probes
vernacular_title: Molekularbiologische Diagnostik und Deletionsnachweis bei Duchennescher Muskeldystrophie.