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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
Type 1
3445T>C
C1149R
Yes
Netherlands
Bertina
Functional studies showed a dominant-neg
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Type 2A
3445T>C
C1149R
No
Spain
Batlle
VWF:Ag 8.0 IU/dL, VWF:RCo 5.0 IU/dL, FVI
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Type 2A
3445T>C
C1149R
No
Netherlands
van Heerde
Mutation is found heterozygous in 4 pati
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