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	3797C>T	P1266L	?	Germany	Ruggeri	Investigated four patients from three unrelated families	Holmberg et al, 1993
28		Type 1	3797C>T	P1266L	No	Netherlands	Bertina	Patients heterozygous, second allele no expression at mRNA level. Mutations corr More ...	Eikenboom et al, 1993
28	12	Type 1	3797C>T	P1266L	No	EU	MCMDM-1VWD	Mutation associated with an abnormal multimer pattern. This mutation results fro More ...	Goodeve et al., 2007
28	28	Type 1	3797C>T	P1266L	No	Canada	Lillicrap	Occurred with a frequency of 0.4 in unaffected family members. Occurred on the s More ...	James et al., 2007