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A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.
Enayat MS, Guilliatt AM, Short PE, Rastegar-Lari G, Jazebi M, Ravonbod S, Ala F, Chapman OG, Hill FG. Enayat MS, et al. Among authors: rastegar lari g. Haemophilia. 2010 Nov;16(6):966-9. doi: 10.1111/j.1365-2516.2010.02271.x. Haemophilia. 2010. PMID: 20491956 No abstract available.