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336 related items for PubMed ID: 8839833
21. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Hilbert L, Gaucher C, Mazurier C. Blood; 1995 Aug 01; 86(3):1010-8. PubMed ID: 7620154 [Abstract] [Full Text] [Related]
22. Correction of a dominant-negative von Willebrand factor multimerization defect by small interfering RNA-mediated allele-specific inhibition of mutant von Willebrand factor. de Jong A, Dirven RJ, Oud JA, Tio D, van Vlijmen BJM, Eikenboom J. J Thromb Haemost; 2018 Jul 01; 16(7):1357-1368. PubMed ID: 29734512 [Abstract] [Full Text] [Related]
23. A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization. Jorieux S, Gaucher C, Goudemand J, Mazurier C. Blood; 1998 Dec 15; 92(12):4663-70. PubMed ID: 9845532 [Abstract] [Full Text] [Related]
24. Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami. Obser T, Ledford-Kraemer M, Oyen F, Brehm MA, Denis CV, Marschalek R, Montgomery RR, Sadler JE, Schneppenheim S, Budde U, Schneppenheim R. J Thromb Haemost; 2016 Sep 15; 14(9):1725-35. PubMed ID: 27344059 [Abstract] [Full Text] [Related]
25. Molecular genetics of von Willebrand disease. Mazurier C, Ribba AS, Gaucher C, Meyer D. Ann Genet; 1998 Sep 15; 41(1):34-43. PubMed ID: 9599650 [Abstract] [Full Text] [Related]
26. Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. Matsubara Y, Murata M, Sugita K, Ikeda Y. J Thromb Haemost; 2003 Oct 15; 1(10):2198-205. PubMed ID: 14521605 [Abstract] [Full Text] [Related]
27. Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain. Casonato A, De Marco L, Gallinaro L, Sztukowska M, Mazzuccato M, Battiston M, Pagnan A, Ruggeri ZM. Thromb Haemost; 2007 Apr 15; 97(4):527-33. PubMed ID: 17393013 [Abstract] [Full Text] [Related]
29. 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. Blood; 2001 Feb 15; 97(4):952-9. PubMed ID: 11159522 [Abstract] [Full Text] [Related]
31. Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1. Michiels JJ, Gadisseur A, Vangenegten I, Schroyens W, Berneman Z. Acta Haematol; 2009 Feb 15; 121(2-3):119-27. PubMed ID: 19506358 [Abstract] [Full Text] [Related]
32. 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. Blood; 2009 Jul 30; 114(5):1091-8. PubMed ID: 19372260 [Abstract] [Full Text] [Related]
33. Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains. Michiels JJ, Gadisseur A, van der Planken M, Schroyens W, Berneman Z. Acta Haematol; 2009 Jul 30; 121(2-3):111-8. PubMed ID: 19506357 [Abstract] [Full Text] [Related]
35. Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X). Lethagen S, Isaksson C, Schaedel C, Holmberg L. Thromb Haemost; 2002 Sep 30; 88(3):421-6. PubMed ID: 12353070 [Abstract] [Full Text] [Related]
36. Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor. Daidone V, Barbon G, Pontara E, Cattini GM, Gallinaro L, Zampese E, Pizzo P, Casonato A. Thromb Haemost; 2014 Dec 30; 112(6):1159-66. PubMed ID: 25230768 [Abstract] [Full Text] [Related]
37. Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van Vliet HH. Acta Haematol; 2009 Dec 30; 121(2-3):85-97. PubMed ID: 19506353 [Abstract] [Full Text] [Related]