Three novel point mutations causing haemophilia A.
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Sukarova-Stefanovska E, Zisovski N, Muratovska O, Kostova S, Efremov GD
Three novel point mutations causing haemophilia A.
Haemophilia. 2002 Sep;8(5):715-8.
- PubMed ID
- 12199686 [ View in PubMed]
- Abstract
Haemophilia A is an X-linked bleeding disorder caused by mutations in the factor VIII gene. In our efforts to elucidate molecular defects in the haemophilia A patients from the Republic of Macedonia, we employed nonradioactive single-strand conformation polymorphism analysis followed by direct sequencing, for identifying point mutations in the factor VIII gene. In the present study we report the detection of three novel missense mutations: Met19 --> Arg; Ala78 --> Pro and Cys2174 --> Gly, all causing haemophilia A.