title: [Molecular biologic study and the factor VIII gene in hemophilia A].
abstract: Results of inversion in the intron 22 region of the VIII factor gene studied by Southern blot are presented. Inversion was found in 20 of 46 patients. In 14 cases (70%) distal and in 6 cases (30%) proximal type of inversion was detected. The significance of the positive result in genetic counseling and in presymptomatic diagnosis of Haemophilia A is emphasized.
authors.affiliation: Pécsi Orvostudományi Egyetem Gyermekklinika.
authors.forename: I
authors.initials: I
authors.lastname: Bock
authors.forename: B
authors.initials: B
authors.lastname: Melegh
authors.forename: A
authors.initials: A
authors.lastname: Nagy
authors.forename: H
authors.initials: H
authors.lastname: Losonczy
authors.forename: B
authors.initials: B
authors.lastname: Csete
authors.forename: W
authors.initials: W
authors.lastname: Schröder
authors.forename: M
authors.initials: M
authors.lastname: Kardos
authors.forename: L
authors.initials: L
authors.lastname: István
authors.forename: R
authors.initials: R
authors.lastname: Jager
authors.forename: A M
authors.initials: AM
authors.lastname: Tóth
authors.forename: A
authors.initials: A
authors.lastname: Tóth
authors.forename: H
authors.initials: H
authors.lastname: Falko
authors.forename: G
authors.initials: G
authors.lastname: Mózsik
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D005169:Factor VIII / Q000235:genetics*; D005817:Genetic Counseling; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology
chemical_list: D005169:Factor VIII