ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28		Unclassified	4120C>T	R1374C	Yes	France	Mazurier		Hilbert et al, 1995b
28	32	Type 1 (Type 2A / 2M)	4120C>T	R1374C	No	EU	MCMDM-1VWD	Mutation associated with an abnormal multimer pattern. Mutation identified in 4 More ...	Goodeve et al., 2007
28	200	Type 2A	4120C>T	R1374C	No	Spain	Vidal	Heterozygous mutation identified in four patients. Average VWF:Ag 28.5%, VWF:RCo More ...	Corrales et al., 2009
28	104	Type 2A / 2M	4120C>T	R1374C	No	Spain	Batlle	VWF:Ag 30 UI/dL, VWF:RCo 8 UI/dL, FVIII:C 30 UI/dL, VWF:CB 25.7. BT >15 min. PFA More ...	Penas et al., 2005