ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
19		Type 2N	2451T>A	H817Q	No	France	French Network	One patient was homozygous for the mutation and the second was heterozygous and More ...
19		Type 2N	2451T>A	H817Q	Yes			Occurs with R782W. Both mutations present on same allele; frameshift mutation on More ...