title: Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene.
authors.forename: Ralph M
authors.initials: RM
authors.lastname: Loreth
authors.forename: Osman
authors.initials: O
authors.lastname: El-Maarri
authors.forename: Jörg
authors.initials: J
authors.lastname: Schröder
authors.forename: Ulrich
authors.initials: U
authors.lastname: Budde
authors.forename: Falko H
authors.initials: FH
authors.lastname: Herrmann
authors.forename: Johannes
authors.initials: J
authors.lastname: Oldenburg
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics*; D006467:Hemophilia A / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D017386:Sequence Homology, Amino Acid
chemical_list: D005169:Factor VIII