ISTH VWF Database
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Ref.
Same mutation 28 Type 2B 3946G>A V1316M ? Pietu et al, 1992
Same mutation 50 Type 3 8155+3G>T Skipping of Exon 50 Yes Germany Mertes et al., 1994
Same mutation 28 100 Type 2B 4382C>T A1461V Yes Hilbert et al, 1995a
Same mutation 28 20 Unclassified 4105T>A F1369I No Normal multimers, decreased ristocetin c More ... Mancuso et al, 1991
Same mutation 43 2 Unclassified 7390C>T R2464C Yes England Mutation associated with an abnormal mul More ... Lester et al., 2007
Same mutation 28 Type 2B 4022G>C R1341P No
Same mutation 28 Type 2B 4022G>A R1341Q ? Piao et al, 1993
Same mutation 28 Type 2B 4022G>A R1341Q No Murray et al, 1991
Same mutation 28 Type 2B 4022G>A R1341Q Yes Randi et al, 1991; Randi et al, 1992
Same mutation 28 Type 2B 4022G>A R1341Q No