ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
35	200	Type 1	5890C>A	Q1964K	No	Spain	Vidal	VWF:Ag 33%, VWF:RCo 42%, FVIII:C 45%. Patient also has a mild FXII deficiency (3 More ...