ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28	12	Type 2A	4789C>T	R1597W	No	USA	Robert Montgomery
28		Type 2A	4789C>T	R1597W	No				Winter and Mayne, Blood 80
28	100	Type 2A	4789C>T	R1597W	?	Japan	Fukutake		Hagiwara et al, 1996
28		Type 2A	4789C>T	R1597W	?		Sixma
28	100	Type 2A	4789C>T	R1597W	?				Sugiura et al, 1992
28		Type 2A	4789C>T	R1597W	?	England	Peake
28	100	Type 2A	4789C>T	R1597W	No				Inbal et al, 1992
28	100	Type 2A	4789C>T	R1597W	Yes	US/France	Ginsburg	Group 2 mutation.	Lyons et al, 1992; Ginsburg et al, 1989
28		Type 2A	4789C>T	R1597W	?	Japan	Saito
28	200	Type 2A	4789C>T	R1597W	No	Spain / Romania	Vidal	Heterozygous mutation identified in two Spanish patients and one Romanian patien More ...	Corrales et al., 2009