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首页> 外文期刊>Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis >Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients
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Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients

机译:两种韩国成年患者序列基因中复合杂合酶的严重蛋白C缺乏

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摘要

Protein C (PC), a vitamin K-dependent zymogen, is an important regulator in the natural antithrombotic system for the hemostatic balance . PC is encoded by the PROC gene on chromosome band 2q13, which is composed of 9 exons (1st exon is noncoding) . Hereditary deficiency of PC (MIM# 176860) is a well-known genetic defect underlying hereditary thrombophilia . Two types of PC deficiency exist
机译:蛋白C(PC)是维生素K依赖性酶原,是天然抗血栓形成系统中的重要调节剂,用于止血平衡。 PC由PROC基因编码染色体带2Q13上的PROC基因,其由9个外显子组成(第1个外显子是非编码)。 PC的遗传缺乏(MIM#176860)是遗传性血栓性血栓性血栓性血栓性遗传缺陷的着名遗传缺陷。 存在两种类型的PC缺陷

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