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Comments |
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2
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218
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Type 1
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55G>A
|
G19R
|
No
|
EU
|
MCMDM-1VWD
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Mutation associated with a normal multimer pattern.
|
Goodeve et al., 2007
|
3
|
80
|
Type 3 (Type 1)
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100C>G
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R34G
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No
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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
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Homozygous mutation.
|
Corrales et al., 2009
|
3
|
108
|
Type 3
|
139G>C
|
D47H
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No
|
Iran
|
Federici / Mannucci
|
Patient homozygous for the candidate missense mutation and of consanguineous des More ...
|
Baronciani et al., 2003
|
3
|
76
|
Type 1
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147C>A
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S49R
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No
|
Turkey
|
Peake
|
Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.
|
|
3
|
10
|
Type 3
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171C>A
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C57X
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No
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Turkey
|
Peake
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Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.
|
|
3
|
108
|
Type 3
|
191delG
|
G64AfsX19
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No
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Iran
|
Federici / Mannucci
|
Patient homozygous for the deletion and of consanguineous descent.
|
Baronciani et al., 2000
|
3
|
|
Type 3
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212C>A
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S71X
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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
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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
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