Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: I...
Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization
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Author / Creator
Publisher
Wiley
Journal title
Language
English
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Publisher
Wiley
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Background: Von Willebrand disease was diagnosed in two Afro-Caribbean patients and sequencing of the VWF gene (VWF) revealed the presence of multiple variants located throughout the gene, including variants located in the D4 domain of VWF: p.(Pro2145Thrfs*5) in one patient and p.(Cys2216Phefs*9) in the other patient. Interestingly, D4 variants hav...
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Full title
Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization
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TN_cdi_hal_primary_oai_HAL_hal_04354187v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04354187v1
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ISSN
2475-0379
E-ISSN
2475-0379
DOI
10.1002/rth2.12737
