Article
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.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2008
Kashiwagi T, Matsushita T, Ito Y, Hirashima K, Sanda N, Fujimori Y, Yamada T, Okumura K, Takagi A, Murate T, Katsumi A, Takamatsu J, Yamamoto K, Naoe T, Kojima T
Abstract excerpt
Type 2A von Willebrand disease (VWD) is characterized by decreased platelet-dependent function of von Willebrand factor (VWF); this in turn is associated with an absence of high-molecular-weight multimers. Sequence analysis of the VWF gene from two unrelated type 2A VWD patients showed an identical, novel, heterozygous T-->G transversion at nucleotide 4508, resulting in the substitution of L1503R in the VWF A2...
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