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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Blood Adv
Main Authors: 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
Idioma:Inglês
Publicado: American Society of Hematology 2020
Assuntos:
Thrombosis and Hemostasis
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares