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Molecular basis of von Willebrand disease.
Mazurier C, Meyer D. Mazurier C, et al. Baillieres Clin Haematol. 1996 Jun;9(2):229-41. doi: 10.1016/s0950-3536(96)80060-6. Baillieres Clin Haematol. 1996. PMID: 8800502 Review.
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E, Mazurier C, Meyer D. Fressinaud E, et al. Among authors: mazurier c. Int J Hematol. 2002 Jan;75(1):9-18. doi: 10.1007/BF02981973. Int J Hematol. 2002. PMID: 11843298 Review.
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
Hilbert L, Jorieux S, Proulle V, Favier R, Goudemand J, Parquet A, Meyer D, Fressinaud E, Mazurier C; INSERM Network on Molecular Abnormalities in von Willebrand Disease. Hilbert L, et al. Among authors: mazurier c. Br J Haematol. 2003 Feb;120(4):627-32. doi: 10.1046/j.1365-2141.2003.04163.x. Br J Haematol. 2003. PMID: 12588349 Free article.
A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.
Stepanian A, Ribba AS, Lavergne JM, Fressinaud E, Juhan-Vague I, Mazurier C, Girma JP, Meyer D. Stepanian A, et al. Among authors: mazurier c. Br J Haematol. 2003 Feb;120(4):643-51. doi: 10.1046/j.1365-2141.2003.04168.x. Br J Haematol. 2003. PMID: 12588351 Free article.
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.
Hilbert L, Nurden P, Caron C, Nurden AT, Goudemand J, Meyer D, Fressinaud E, Mazurier C; INSERM Network on Molecular Abnormalities in von Willebrand Disease. Hilbert L, et al. Among authors: mazurier c. Thromb Haemost. 2006 Sep;96(3):290-4. doi: 10.1160/TH06-03-0157. Thromb Haemost. 2006. PMID: 16953269
172 results