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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United States: Elsevier Inc
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Language
English
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Publisher
United States: Elsevier Inc
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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 have not been s...
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Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization
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TN_cdi_doaj_primary_oai_doaj_org_article_b5a5473594134f32afc891cac997479f
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b5a5473594134f32afc891cac997479f
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ISSN
2475-0379
E-ISSN
2475-0379
DOI
10.1002/rth2.12737
