Same mutation
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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 More ...
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 More ...
Type 2A 4517C>T S1506L No Spain Batlle VWF:Ag 12.2 IU/dL, VWF:RCo 5 IU/dL, VWF: More ...