Article
Mild/moderate haemophilia A: new insights into molecular mechanisms and inhibitor development.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2008
d'Oiron R, Pipe S W, Jacquemin M
Abstract excerpt
In mild/moderate haemophilia A (MHA) patients, many factor VIII (FVIII) gene defects, mainly missense mutations, have been identified and greatly improved the understanding of the structure and function of FVIII molecule. Characterization of the molecular mechanisms involved in MHA has helped to identify regions critical for proper FVIII biosynthesis, thrombin activation, intramolecular stability as well as...
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