Same mutation
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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 More ...
Type 2A 3445T>C C1149R No Spain Batlle VWF:Ag 8.0 IU/dL, VWF:RCo 5.0 IU/dL, FVI More ...
Type 2A 3445T>C C1149R No Netherlands van Heerde Mutation is found heterozygous in 4 pati More ...