Associated Papers
The molecular genetics of von Willebrand disease.
Berber E
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Jacobi PM et al.
Blood, 2012
Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
Dong J et al.
Plos One, 2012
The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation.
Casari C et al.
Blood, 2010
[Gene mutation analysis of one case with von willebrand disease type 2A].
Hou LH et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2009
L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.
Kashiwagi T et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
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