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Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.
Authors: Murray, Elizabeth W. Giles, Alan R. Lillicrap, David
Citation: W. Murray, Elizabeth et al., Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease., American journal of human genetics , 50-I(1), 1992, pp. 199-207
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