Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene.
Loreth
Ralph M
RM
El-Maarri
Osman
O
Schröder
Jörg
J
Budde
Ulrich
U
Herrmann
Falko H
FH
Oldenburg
Johannes
J
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
D005169:Factor VIII