Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII

Missense mutation is the most common mutation type in hemophilia. However, the majority of missense mutations remain uncharacterized. Here we characterize how hemophilia mutations near the unused N-glycosylation site of the A2 domain (N582) of FVIII affect protein conformation and intracellular traf...

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Detalles Bibliográficos
Autores principales: Wei, Wei, Zheng, Chunlei, Zhu, Min, Zhu, Xiaofan, Yang, Renchi, Misra, Saurav, Zhang, Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5361195/
https://www.ncbi.nlm.nih.gov/pubmed/28327546
http://dx.doi.org/10.1038/srep45033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5361195/
https://www.ncbi.nlm.nih.gov/pubmed/28327546
http://dx.doi.org/10.1038/srep45033

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