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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Letter to the Editor
Online adgang: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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