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  • Title: [PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case].
    Author: Wei XY, Wang J, Tan BY, Li ZJ.
    Journal: Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2023 Oct; 45(5):863-866. PubMed ID: 37621108.
    Abstract:
    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. 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。.
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