ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
36	206	Type 3	6187C>T	P2063S	No	Turkey	Peake	The mutation was found in 1/200 screened Caucasian alleles. Heterozygotes for th More ...
36	10	Type 1	6187C>T	P2063S	No	Canada	Lillicrap	Occurred with a frequency of 0.25 in unaffected family members.	James et al., 2007