title: Characterization of genetic defects of hemophilia A in mainland China.
abstract: 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.
authors.affiliation: Shanghai Institute of Haematology, Ruijin Hospital, Shanghai Second Medical University, People's Republic of China.
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Zhang
authors.forename: J X
authors.initials: JX
authors.lastname: Liu
authors.forename: H Z
authors.initials: HZ
authors.lastname: Shao
authors.forename: Z W
authors.initials: ZW
authors.lastname: Chi
authors.forename: H L
authors.initials: HL
authors.lastname: Wang
authors.forename: S J
authors.initials: SJ
authors.lastname: Chen
authors.forename: Z
authors.initials: Z
authors.lastname: Chen
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Wang
authors.forename: W
authors.initials: W
authors.lastname: Huang
mesh_terms: 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
chemical_list: D005169:Factor VIII; D004247:DNA