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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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| 出版年: | J Cell Mol Med |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | 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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