ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28	200	Type 3	4079T>C	V1360A	No	Pakistan	Vidal	Identified as part of a homozygous gene conversion event in conjunction with mut More ...	Corrales et al., 2009
28	8	Type 2M	4079T>C	V1360A	No	Netherlands	van Heerde	Mutation is found heterozygous in 4 patients (1 family) with a comparable labora More ...