Article
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
Nature - 1 Jan 2000
Gitschier J, Wood W I, Tuddenham E G, Shuman M A, Goralka T M, Chen E Y, Lawn R M
Abstract excerpt
The most common inherited bleeding disorder in man, haemophilia A, is caused by defect in factor VIII, a component in the blood coagulation pathway. The X-chromosome-linked disease almost certainly stems from a heterogeneous collection of genetic lesions. Because, without proper treatment, haemophilia can be a fatal disease, new mutations are necessary to account for its constant frequency in the population. In...
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