Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay

Many mutations in the signal peptide and propeptide of factor IX (FIX) cause hemophilia B. A FIX variants database reports 28 unique missense mutations in these regions that lead to FIX deficiency, but the underlying mechanism is known only for the mutations on R43 that interfere with propeptide cle...

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Detalles Bibliográficos
Publicado en:Blood Adv
Autores principales: Gao, Wenwen, Xu, Yaqi, Liu, Hongli, Gao, Meng, Cao, Qing, Wang, Yiyi, Cui, Longteng, Huang, Rong, Shen, Yan, Li, Sanqiang, Yang, Haiping, Chen, Yixiang, Li, Chaokun, Yu, Haichuan, Li, Weikai, Shen, Guomin
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Hematology 2020
Materias:
Thrombosis and Hemostasis
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7422117/
https://ncbi.nlm.nih.gov/pubmed/32766856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020002520
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