Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion

We identified three novel mutations (p.Gly39Arg, p.Lys157Glu, p.Cys379Gly) and one previously known mutation (p.Asp141Asn) in the von Willebrand factor propeptide from three von Willebrand disease patients. All four mutations impaired multimerization of von Willebrand factor, due to reduced oxidored...

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Detalhes bibliográficos
Publicado no:J Hematol Oncol
Main Authors: Yin, Jie, Ma, Zhenni, Su, Jian, Wang, Jiong-Wei, Zhao, Xiaojuan, Ling, Jing, Bai, Xia, Ouyang, Wanyan, Wang, Zhaoyue, Yu, Ziqiang, Ruan, Changgeng
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Letter to the Editor
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4487848/
https://ncbi.nlm.nih.gov/pubmed/26088471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13045-015-0166-9
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