ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28	48	Type 1	4751A>G	Y1584C	Yes	Canada	Lillicrap	Previously reported as a polymorphism.	O'Brien et al, 2003; James et al., 2007
28	106	Type 1	4751A>G	Y1584C	No	EU	MCMDM-1VWD	Mutation associated with a normal multimer pattern. Mutation identified in 13 fa More ...	Goodeve et al., 2007
28	100	Type 1	4751A>G	Y1584C	No	Spain	Batlle	VWF:Ag 30 IU/dL, VWF:RCo 40 IU/dL, FVIII:C 50.5%. Normal multimer pattern.