Effect of von Willebrand factor Y/C1584 on in vivo protein level and function and interaction with ABO blood group.

doi:10.1182/blood-2006-07-035105

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Article

Effect of von Willebrand factor Y/C1584 on in vivo protein level and function and interaction with ABO blood group.

Blood - 1 Apr 2007

Davies James Anthony, Collins Peter William, Hathaway Lee Sarah, Bowen Derrick John

Abstract excerpt

Blood group O and the cysteine allele of the Y/C1584 change in von Willebrand factor (VWF) are enriched in type 1 VWD, but neither causes disease. We investigated the effect of C1584, alone and in combination with the ABO blood group, on the level and properties of plasma VWF. A cohort of 5052 blood donors was recruited: 50 donors were heterozygous for Y/C1584 and 5002 were homozygous for Y/Y1584. Mean VWF...

Topics

ABO Blood-Group System
Alleles
Amino Acid Substitution
Antigens
Base Sequence
Cohort Studies
DNA Primers
Female
Gene Frequency
Heterozygote
Homozygote
Humans
Male
Multiprotein Complexes
Phenotype
Polymorphism, Single Nucleotide
Wales
von Willebrand Factor

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Open in PubMed

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PMID: 17119126
DOI: 10.1182/blood-2006-07-035105

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