IC

Ibuki Yasuda1, Satomi Nagaya1, Rikuto Yui1

  • 1Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.

PubMed
概括

两个蛋白C (PC) 基因变异,L173P和V241L,通过损害PC分泌导致遗传性血栓性疾病. L173P导致降解,而V241L导致ER保留,揭示了I型PC缺乏症中明显的分子缺陷.

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