Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis

Pathogenic mutation of protein C (PROC) gene results into the deficiency of PROC activity. This study aimed to identify the pathogenic genetic variants and to explore the functional consequence in Chinese familial venous thrombosis (VTE). Whole exome sequencing was performed to identify the pathogen...

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Detalles Bibliográficos
Autores principales: Yue, Yongjian, Liu, Shengguo, Han, Xuemei, Xiao, Lu, Huang, Qijun, Li, Shulin, Zhuang, Kaixue, Yang, Mo, Zou, Chang, Fu, Yingyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Short Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787509/
https://www.ncbi.nlm.nih.gov/pubmed/31338992
http://dx.doi.org/10.1111/jcmm.14563

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