ISTH mutations
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Amino Acid Substitution
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28 25 Type 2A 4883T>C I1628T Yes Iannuzzi et al, 1991; Lyons et al, 1994
28 Type 2A 4883T>C I1628T ? Also reported as polymorphism in French population. Pietu et al, 1992
28 200 Type 2A 4883T>C I1628T No Spain Vidal Heterozygous mutation identified in four Spanish patients. Average VWF:Ag 35.8%, More ...