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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Unclassified
3614G>A
R1205H
Yes
France
French Network
All patients have VWD with a phenotype V
More ...
Type 2M
3614G>A
R1205H
?
Italy
Schneppenheim
Found also in one German patient and in
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Type 1
3614G>A
R1205H
No
Spain
Casana
Mutation identified in five unrelated fa
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Type 1
3614G>A
R1205H
Yes
England
UKHCDO
The group believes the mutation to be co
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Type 1
3614G>A
R1205H
No
EU
MCMDM-1VWD
Mutation associated with an abnormal mul
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Type 1
3614G>A
R1205H
No
Canada
Lillicrap