Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease

The carboxyl-terminal domains of von Willebrand factor, D4-CK, are cysteine-rich implying that they are structurally important. In this study we characterized the impact of five cysteine missense mutations residing in D4-CK domains on the conformation and biosynthesis of von Willebrand factor. These...

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Detalhes bibliográficos
Main Authors: Yadegari, Hamideh, Driesen, Julia, Pavlova, Anna, Biswas, Arijit, Ivaskevicius, Vytautas, Klamroth, Robert, Oldenburg, Johannes
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2013
Assuntos:
Original Articles and Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3729914/
https://ncbi.nlm.nih.gov/pubmed/23539537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2013.084111
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