ISTH mutations
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VWD Classification
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2 218 Type 1 55G>A G19R No EU MCMDM-1VWD Mutation associated with a normal multimer pattern. Goodeve et al., 2007
3 80 Type 3 (Type 1) 100C>G R34G No Turkey Peake Heterozygotes for this mutation had a type 1 VWD phenotype. Family was supplied More ...
3 200 Type 3 100C>T R34X No Spain Vidal Homozygous mutation. Corrales et al., 2009
3 108 Type 3 139G>C D47H No Iran Federici / Mannucci Patient homozygous for the candidate missense mutation and of consanguineous des More ... Baronciani et al., 2003
3 76 Type 1 147C>A S49R No Turkey Peake Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.
3 10 Type 3 171C>A C57X No Turkey Peake Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.
3 108 Type 3 191delG G64AfsX19 No Iran Federici / Mannucci Patient homozygous for the deletion and of consanguineous descent. Baronciani et al., 2000
3 Type 3 212C>A S71X No China Jiangsu Institute of Hematology The parents of the patient were heterozygous for this mutation as identified by More ... Wang et al., 2000
4 108 Type 3 253T>C S85P No Italy Federici / Mannucci Patient presents 3 mutations, the candidate missense mutation in one allele alon More ... Baronciani et al., 2003
4 10 Unclassified 260A>C Y87S Yes USA Montgomery Rosenberg et al., 2002