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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Type 3
7603C>T
R2535X
?
Germany
Schneppenheim
One patient was homozygous.
Type 3
7603C>T
R2535X
No
Turkey
Peake
Family was supplied by Dr. J. Ingerslev,
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Type 3
7603C>T
R2535X
No
1 type III patient is heterozygous in ex
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Type 3
7603C>T
R2535X
No
Patients are heterozygous; all 3 alleles
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