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Article

Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.

Journal of medicine and life - 1 Mar 2023

Alzahrani Faisal Mousa, Al Faris Asma Abdulrazaq, Shaikh Saeed Sattar, Hassan Fathelrahman Mahdi, Aldossary Maryam Ahmed, Al Sultan Osama, Elhadi Nasreldin, Alabsi Sulaiman Salman, Alsahli Mohammed, Bashawri Layla Abdulmohsen, Muzaheed Muzaheed, Goodeve Anne

Abstract excerpt

Von Willebrand factor (VWF) is a plasma glycoprotein that plays a key role in hemostasis. Mutations in this protein can result in von Willebrand disease (VWD), the most common form of bleeding disorder in humans. Patients with type 1 VWD have a quantitative plasmatic deficiency of normal structural and functional VWF. Our study aimed to investigate the phenotypic and genotypic characteristics of VWD type 1...

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Identifiers

PMID: 37168293
DOI: 10.25122/jml-2022-0276
PMCID: PMC10165513

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