Editorial & Opinion
A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease.
| العنوان: | A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease. |
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| المؤلفون: | Zeng M; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou 325000, China., Jia K; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou 325000, China., Liu M; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou 325000, China., Wang M; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou 325000, China., Yang L; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou 325000, China., Xie H; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou 325000, China. Electronic address: wyxiehaixiao@163.com. |
| المصدر: | Thrombosis research [Thromb Res] 2023 Dec; Vol. 232, pp. 104-107. Date of Electronic Publication: 2023 Nov 11. |
| نوع المنشور: | Letter |
| اللغة: | English |
| بيانات الدورية: | Publisher: Pergamon Press Country of Publication: United States NLM ID: 0326377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-2472 (Electronic) Linking ISSN: 00493848 NLM ISO Abbreviation: Thromb Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Elmsford, N. Y., Pergamon Press. |
| مواضيع طبية MeSH: | Antithrombin III Deficiency*/genetics , Thrombosis*/genetics, Humans ; East Asian People ; Antithrombin III/genetics ; Mutation |
| مستخلص: | Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare. |
| فهرسة مساهمة: | Keywords: Hereditary antithrombin deficiency; Novel mutation; SERPINC1; Venous thromboembolism |
| المشرفين على المادة: | 9000-94-6 (Antithrombin III) 0 (SERPINC1 protein, human) |
| تواريخ الأحداث: | Date Created: 20231117 Date Completed: 20231127 Latest Revision: 20231129 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.thromres.2023.11.002 |
| PMID: | 37976729 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 1879-2472 |
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| DOI: | 10.1016/j.thromres.2023.11.002 |