ISTH VWF Database
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VWD Classification
Exon No
Nucleotide Change
Amino Acid Substitution
Alleles
Functional Studies
Country
Laboratory
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Details found: 589
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
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