ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28	10	Type 2M	4105T>A	F1369I	Yes	US	Montgomery		Hillery et al, 1998
28	20	Unclassified	4105T>A	F1369I	No			Normal multimers, decreased ristocetin cofactor activity.	Mancuso et al, 1991
28	200	Type 3	4105T>A	F1369I	No	Pakistan	Vidal	Identified as part of a homozygous gene conversion event in conjunction with mut More ...	Corrales et al., 2009