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Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects

von Willebrand factor (VWF) is an extremely cysteine-rich multimeric protein that is essential for maintaining normal hemostasis. The cysteine residues of VWF monomers form intra- and intermolecular disulfide bonds that regulate its structural conformation, multimer distribution, and ultimately its...

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Detalles Bibliográficos
Autores principales:	Rawley, Orla, Swystun, Laura L., Brown, Christine, Nesbitt, Kate, Rand, Margaret, Hossain, Taneya, Klaassen, Robert, James, Paula D., Carcao, Manuel D., Lillicrap, David
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society of Hematology 2022
Materias:	Thrombosis and Hemostasis
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092401/ https://www.ncbi.nlm.nih.gov/pubmed/35020809 http://dx.doi.org/10.1182/bloodadvances.2021005928

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