ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28	110	Unclassified	4135C>T	R1379C	?	Spain	Casana		Casaña et al, 2001
28	6	Type 1	4135C>T	R1379C	No	EU	MCMDM-1VWD	Mutation associated with a normal multimer pattern.	Goodeve et al., 2007
28	200	Type 1	4135C>T	R1379C	No	Spain	Vidal	VWF:Ag 32%, VWF:RCo 26%, FVIII:C 45%, ABO O blood group.	Corrales et al., 2009