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The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.
Bowen DJ, Collins PW, Lester W, Cumming AM, Keeney S, Grundy P, Enayat SM, Bolton-Maggs PH, Keeling DM, Khair K, Tait RC, Wilde JT, Pasi KJ, Hill FG; UK Haemophilia Centre Doctors' Organization. Bowen DJ, et al. Among authors: cumming am. Br J Haematol. 2005 Mar;128(6):830-6. doi: 10.1111/j.1365-2141.2005.05375.x. Br J Haematol. 2005. PMID: 15755288 Free article.
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.
Sutherland MS, Cumming AM, Bowman M, Bolton-Maggs PH, Bowen DJ, Collins PW, Hay CR, Will AM, Keeney S. Sutherland MS, et al. Among authors: cumming am. Blood. 2009 Jul 30;114(5):1091-8. doi: 10.1182/blood-2008-08-173278. Epub 2009 Apr 16. Blood. 2009. PMID: 19372260 Free article.
113 results