Article
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
American journal of human genetics - 1 Apr 1996
Becker J, Schwaab R, Möller-Taube A, Schwaab U, Schmidt W, Brackmann H H, Grimm T, Olek K, Oldenburg J
Abstract excerpt
The clinical manifestation of hemophilia A is caused by a wide range of different mutations. In this study the factor VIII genes of 147 severe hemophilia A patients--all exclusively from sporadic families--were screened for mutations by use of the complete panel of modern DNA techniques. The pathogenous defect could be characterized in 126 patients (85.7 percent). Fifty-five patients (37.4 percent) showed a...
Topics
- Base Sequence
- DNA Mutational Analysis
- Factor VIII
- Female
- Germany
- Hemophilia A
- Heterozygote
- Humans
- Male
- Minisatellite Repeats
- Molecular Sequence Data