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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Detalles Bibliográficos
Autores principales: Yin, Jie, Ma, Zhenni, Su, Jian, Wang, Jiong-Wei, Zhao, Xiaojuan, Ling, Jing, Bai, Xia, Ouyang, Wanyan, Wang, Zhaoyue, Yu, Ziqiang, Ruan, Changgeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487848/
https://www.ncbi.nlm.nih.gov/pubmed/26088471
http://dx.doi.org/10.1186/s13045-015-0166-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487848/
https://www.ncbi.nlm.nih.gov/pubmed/26088471
http://dx.doi.org/10.1186/s13045-015-0166-9

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