Article
Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.
Blood - 15 Oct 1995
Arruda V R, Pieneman W C, Reitsma P H, Deutz-Terlouw P P, Annichino-Bizzacchi J M, Briët E, Costa F F
Abstract excerpt
The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in fo...
Topics
- Base Sequence
- Brazil
- Exons
- Factor VIII
- Hemophilia A
- Humans
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Sequence Deletion
- Silver Staining