Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.
Miyawaki
Yuhri
Y
Suzuki
Atsuo
A
Fujimori
Yuhta
Y
Takagi
Akira
A
Murate
Takashi
T
Suzuki
Nobuaki
N
Katsumi
Akira
A
Naoe
Tomoki
T
Yamamoto
Koji
K
Matsushita
Tadashi
T
Takamatsu
Junki
J
Kojima
Tetsuhito
T
D007446:Chromosome Inversion; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns; D010641:Phenotype; D049951:X Chromosome Inactivation; D055815:Young Adult
D005169:Factor VIII