ISTH VWF Database
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
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Comments
Ref.
Same mutation 28 Type 2A 4789C>T R1597W ? Sixma
Same mutation 28 Type 2A 4837T>C S1613P Yes
Same mutation 25 Type 1 3379+1G>A N/A No England UKHCDO Cumming et al., 2006
Same mutation 28 Type 2A 4825G>A G1609R Yes Donner et al, 1993
Same mutation 26 Type 1 3430T>G W1144G Yes USA Montgomery By virtue of mutation, VWF clearance is More ... Haberichter et al., 2006
Same mutation 28 Type 2A 4790G>T R1597L No France French Network
Same mutation 28 Type 2A 4790G>A R1597Q No Meyer
Same mutation 28 Type 2A 4790G>A R1597Q No Sixma
Same mutation 26 Type 2A 3437A>G Y1146C Yes Germany Schneppenheim VWF:Ag 0.20+/-0.07; VWF:CB 0.16+/-0.06; More ... Schneppenheim et al., 2010
Same mutation 28 Type 2A 4789C>T R1597W ? Japan Saito