ISTH mutations
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VWD Classification
Exon No
Nucleotide Change
Amino Acid Substitution
Alleles
Functional Studies
Country
Laboratory
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Ref.
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%,
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