ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28	100	Unclassified	3943C>T	R1315C	Yes	France	French Network	rVWF shows decreased binding to GPIb.	Meyer et al, 1997
28	20	Type 2M	4173-4205 del	R1392-Q1402 del	Yes	USA	Montgomery	VWF:RCo = 3-8, VWF:Ag 14-35, normal multimers, no platelet binding with ristocet More ...	Mancuso et al, 1996
28	100	Unclassified	4121G>T	R1374L	Yes	France & Algeria	French Network	One patient is compound heterozygous; R1374L + L1276P.	Meyer et al, 1997
28		Unclassified	4121G>A	R1374H	Yes	France	Mazurier		Hilbert et al, 1995b
28		Unclassified	4120C>T	R1374C	Yes	France	Mazurier		Hilbert et al, 1995b
28	6	Type 2B	4115T>G	I1372S	Yes	Italy	Casonato	The mutation was found in a heterozygous state. Mutation carriers had normal VWF More ...	Casonato et al., 2007
28	10	Type 2M	4105T>A	F1369I	Yes	US	Montgomery		Hillery et al, 1998
28		Type 2M	4085A>C	K1362T	Yes	France	French Network	The patient, with type 2A VWD, is double heterozygous for K1362T and C1157F muta More ...
28	100	Type 2M	4075G>A	E1359K	Yes	France	French Network		Meyer et al, 1997
28		Type 2B	4022G>T	R1341L	Yes		Mazurier