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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 2A
4517C>T
S1506L
No
USA
Robert Montgomery
Also reported as a polymorphism in Frenc
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Type 2A
4517C>T
S1506L
No
Argentina
Sadler
Type 2A
4517C>T
S1506L
?
Daly
Type 2A
4517C>T
S1506L
No
Type 2A
4517C>T
S1506L
No
Type 2A
4517C>T
S1506L
Yes
Type 2A
4517C>T
S1506L
?
Israel
Inbal
Type 2A
4517C>T
S1506L
No
Japan
Saito
Type 3
4517C>T
S1506L
No
Turkey
Berber
VWF:Ag 1%, VWF:RCo 12%, FVIII:C 1.5%. Pa
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Type 2A
4517C>T
S1506L
No
Spain
Batlle
VWF:Ag 12.2 IU/dL, VWF:RCo 5 IU/dL, VWF:
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