دورية أكاديمية
[PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case].
| العنوان: | [PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case]. |
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| المؤلفون: | Wei XY; First Clinical Medical College of Lanzhou University,Lanzhou 730000,China., Wang J; First Clinical Medical College of Lanzhou University,Lanzhou 730000,China., Tan BY; Department of Laboratory,The First Hospital of Lanzhou University,Lanzhou 730000,China., Li ZJ; First Clinical Medical College of Lanzhou University,Lanzhou 730000,China.; Department of Hematology,The First Hospital of Lanzhou University,Lanzhou 730000,China. |
| المصدر: | Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae [Zhongguo Yi Xue Ke Xue Yuan Xue Bao] 2023 Oct; Vol. 45 (5), pp. 863-866. |
| نوع المنشور: | Case Reports; English Abstract; Journal Article |
| اللغة: | Chinese |
| بيانات الدورية: | Publisher: Zhongguo yi xue ke xue yuan Country of Publication: China NLM ID: 8006230 Publication Model: Print Cited Medium: Print ISSN: 1000-503X (Print) Linking ISSN: 1000503X NLM ISO Abbreviation: Zhongguo Yi Xue Ke Xue Yuan Xue Bao Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Beijing : Zhongguo yi xue ke xue yuan Original Publication: [Beijing] Zhongguo yi xue ke xue yuan. |
| مواضيع طبية MeSH: | Protein S*/genetics , Protein S Deficiency*/genetics, Humans ; Female ; Pedigree ; Mutation |
| مستخلص: | Reduced protein S activity is one of the high-risk factors for venous thromboembolism.Hereditary protein S deficiency is an autosomal dominant disorder caused by mutations in the PROS1 gene.We reported a female patient with a mutation of c.292 G>T in exon 3 of the PROS1 gene,which was identified by sequencing.The genealogical analysis revealed that the mutation probably originated from the patient's mother.After searching against the PROS1 gene mutation database and the relevant literature,we confirmed that this mutation was reported for the first time internationally. |
| فهرسة مساهمة: | Keywords: PROS1; mutation; protein S deficiency Local Abstract: [Publisher, Chinese] 蛋白S活性降低是静脉血栓栓塞的高危因素之一。遗传性蛋白S缺乏症是由PROS1基因突变引起的常染色体显性遗传病。本文报道1例PROS1基因突变的女性患者,测序发现在PROS1基因第3外显子中c.292 G>T。谱系分析显示该突变可能源自于患者的母亲。经查询PROS1基因突变数据库及文献检索,证实这个突变为国际首次报道。. |
| المشرفين على المادة: | 0 (Protein S) |
| تواريخ الأحداث: | Date Created: 20230825 Date Completed: 20231107 Latest Revision: 20231107 |
| رمز التحديث: | 20231215 |
| DOI: | 10.3881/j.issn.1000-503X.15541 |
| PMID: | 37621108 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1000-503X |
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| DOI: | 10.3881/j.issn.1000-503X.15541 |