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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Enregistré dans:
Détails bibliographiques
Publié dans:J Cell Mol Med
Auteurs principaux: Yue, Yongjian, Liu, Shengguo, Han, Xuemei, Xiao, Lu, Huang, Qijun, Li, Shulin, Zhuang, Kaixue, Yang, Mo, Zou, Chang, Fu, Yingyun
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2019
Sujets:
Short Communications
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6787509/
https://ncbi.nlm.nih.gov/pubmed/31338992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.14563
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