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...

Descripción completa

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

Internet

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

Ejemplares similares