Article
Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor.
Blood - 15 Mar 2000
Allen S, Abuzenadah A M, Blagg J L, Hinks J, Nesbitt I M, Goodeve A C, Gursel T, Ingerslev J, Peake I R, Daly M E
Abstract excerpt
Two novel mutations, a T-to-C transition at nucleotide 2612 and a T-to-G transversion at nucleotide 3923 of the von Willebrand factor (vWF) complementary DNA, were detected by analysis of the vWF gene in DNA from members of 2 families with atypical von Willebrand disease. The T2612C transition predicts substitution of cysteine by arginine at amino acid position 788 (C788R), and the T3923G transversion predicts...
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