ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28		Type 2B	4022G>A	R1341Q	No
28		Type 2B	4022G>A	R1341Q	Yes				Randi et al, 1991; Randi et al, 1992
28		Type 2B	4022G>A	R1341Q	No		Sixma, Mazurier
28		Type 2B	4022G>A	R1341Q	No				Murray et al, 1991
28	98	Type 2B	4022G>A	R1341Q	No		Ginsburg		Cooney et al, 1991
28		Type 2B	4022G>A	R1341Q	No	Canada	Lillicrap		Lillicrap et al, 1991
28		Type 2B	4022G>A	R1341Q	?				Piao et al, 1993