Characterization of genetic defects of hemophilia A in mainland China.
Southern blotting, PCR, DGGE and DNA sequencing were used to study gene mutations in 52 unrelated Chinese Hemophilia A patients. 18 out of 34 severe cases had intron 22 inversions, 13 had small gene lesions, of which five are novel.
Zhang
Y Z
YZ
Shanghai Institute of Haematology, Ruijin Hospital, Shanghai Second Medical University, People's Republic of China.
Liu
J X
JX
Shao
H Z
HZ
Chi
Z W
ZW
Wang
H L
HL
Chen
S J
SJ
Chen
Z
Z
Wang
Z Y
ZY
Huang
W
W
D002681:China; D007446:Chromosome Inversion; D004247:DNA / Q000032:analysis*; D004591:Electrophoresis, Polyacrylamide Gel; D005169:Factor VIII / Q000235:genetics; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D005169:Factor VIII; D004247:DNA