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Comments |
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4
|
10
|
Unclassified
|
260A>C
|
Y87S
|
Yes
|
USA
|
Montgomery
|
|
Rosenberg et al., 2002
|
18
|
|
Type 2N
|
2384A>G
|
Y795C
|
Yes
|
France
|
French Network
|
Mutation associated with R854Q on the other allele.
|
Hilbert et al., 2004
|
18
|
200
|
Type 2N
|
2384A>G
|
Y795C
|
Yes
|
Germany
|
Schneppenheim
|
Patient also compound heterozygous for 4696C>T (R1566X).
|
Schneppenheim et al., 2004
|
15
|
108
|
Type 3
|
1830C>A
|
Y610X
|
No
|
Italy
|
Federici / Mannucci
|
Patient compound heterozygous with mutation R365X (1093C>T).
|
Baronciani et al., 2003
|
9
|
|
Type 2N
|
1071C>A
|
Y357X
|
No
|
France
|
Mazurier
|
|
Mazurier et al., 2002
|
42
|
24
|
Type 3
|
7176T>G
|
Y2392X
|
No
|
Turkey
|
Peake
|
This mutation was found in two type 3 VWD families. It was uncertain whether bot More ...
|
|
28
|
48
|
Type 1
|
4751A>G
|
Y1584C
|
Yes
|
Canada
|
Lillicrap
|
Previously reported as a polymorphism.
|
O'Brien et al, 2003; James et al., 2007
|
28
|
106
|
Type 1
|
4751A>G
|
Y1584C
|
No
|
EU
|
MCMDM-1VWD
|
Mutation associated with a normal multimer pattern. Mutation identified in 13 fa More ...
|
Goodeve et al., 2007
|
28
|
100
|
Type 1
|
4751A>G
|
Y1584C
|
No
|
Spain
|
Batlle
|
VWF:Ag 30 IU/dL, VWF:RCo 40 IU/dL, FVIII:C 50.5%. Normal multimer pattern.
|
|
28
|
108
|
Type 3
|
4626C>G
|
Y1542X
|
No
|
Italy
|
Federici/Mannucci
|
Patient homozygous for the nonsense mutation and of consanguineous descent.
|
Baronciani et al, 2000
|