ISTH VWF Database
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VWD Classification
Exon No
Nucleotide Change
Amino Acid Substitution
Alleles
Functional Studies
Country
Laboratory
Comments
Reference
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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
2
218
Type 1
55G>A
G19R
No
EU
MCMDM-1VWD
Mutation associated with a normal multim
More ...
Goodeve et al., 2007
Same mutation
3
80
Type 3 (Type 1)
100C>G
R34G
No
Turkey
Peake
Heterozygotes for this mutation had a ty
More ...
Same mutation
3
200
Type 3
100C>T
R34X
No
Spain
Vidal
Homozygous mutation.
Corrales et al., 2009
Same mutation
3
108
Type 3
139G>C
D47H
No
Iran
Federici / Mannucci
Patient homozygous for the candidate mis
More ...
Baronciani et al., 2003
Same mutation
3
76
Type 1
147C>A
S49R
No
Turkey
Peake
Family was supplied by Dr. J. Ingerslev,
More ...
Same mutation
3
10
Type 3
171C>A
C57X
No
Turkey
Peake
Family was supplied by Dr. J. Ingerslev,
More ...
Same mutation
3
108
Type 3
191delG
G64AfsX19
No
Iran
Federici / Mannucci
Patient homozygous for the deletion and
More ...
Baronciani et al., 2000
Same mutation
3
Type 3
212C>A
S71X
No
China
Jiangsu Institute of Hematology
The parents of the patient were heterozy
More ...
Wang et al., 2000
Same mutation
4
108
Type 3
253T>C
S85P
No
Italy
Federici / Mannucci
Patient presents 3 mutations, the candid
More ...
Baronciani et al., 2003
Same mutation
4
10
Unclassified
260A>C
Y87S
Yes
USA
Montgomery
Rosenberg et al., 2002