Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.
Wang
Xuefeng
X
Lu
Yeling
Y
Ding
Qiulan
Q
Dai
Jing
J
Xi
Xiaodong
X
Wang
Hongli
H
D001777:Blood Coagulation / Q000235:genetics*; D001780:Blood Coagulation Tests; D002675:Child, Preschool; D007446:Chromosome Inversion; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006395:Hemarthrosis / Q000235:genetics; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D049951:X Chromosome Inactivation; D055815:Young Adult
C078147:F8 protein, human; D005169:Factor VIII