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The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor.
Ribba AN, Hilbert L, Lavergne JM, Fressinaud E, Boyer-Neumann C, Ternisien C, Juhan-Vague I, Goudemand J, Girma J, Mazurier C, Meyer D. Ribba AN, et al. Blood. 2001 Feb 15;97(4):952-9. doi: 10.1182/blood.v97.4.952. Blood. 2001. PMID: 11159522 Free article.
von Willebrand factor: structure and function.
Meyer D, Piétu G, Fressinaud E, Girma JP. Meyer D, et al. Among authors: girma jp. Mayo Clin Proc. 1991 May;66(5):516-23. doi: 10.1016/s0025-6196(12)62394-5. Mayo Clin Proc. 1991. PMID: 1903172 Review.
von Willebrand factor: structure and function.
Meyer D, Girma JP. Meyer D, et al. Among authors: girma jp. Thromb Haemost. 1993 Jul 1;70(1):99-104. Thromb Haemost. 1993. PMID: 8236123 No abstract available.
80 results