Article
[2% Haemophilia A patients without mutation in the FVIII gene].
Hamostaseologie - 1 Feb 2003
Uen C, Oldenburg J, Schröder J, Brackmann H-J, Schramm W, Schwaab R, Schneppenheim R, Graw J
Abstract excerpt
In Germany, approximately 6,000 patients are suffering from haemophilia A. Screening methods cover 97% of the mutations. For the other patients the coding sequences of the FVIII gene have to be sequenced in total. Out of 1,350 patients, no mutation was observed in 80 patients. In 5 patients, we observed an inversion in intron 1. Known mutations were detected in 16 patients, and in 19 cases novel mutations were...
Topics
- Base Sequence
- Codon
- DNA
- DNA Transposable Elements
- Factor VIII
- Genetic Testing
- Germany
- Hemophilia A
- Humans
- Incidence
- Introns
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Sequence Deletion