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Updated: Jan 14, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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与E200K突变相关的基因Creutzfeldt-Jakob疾病:一个大型队列研究

Brian S Appleby1,2,3,4, Matteo Manca5, Megan S Piazza6,7

  • 1Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, USA. bsa35@case.edu.

Acta neuropathologica
|January 13, 2026
PubMed
概括

遗传克鲁茨菲尔特 - 雅各布病 (gCJD) E200K病例显示出由129号密码体多态性影响的多种表型. 这项规模最大的队列研究揭示了不同的病原体和PrPSc亚型,为CGJD E200K提供了新的见解.

关键词:
第129号码是什么意思克鲁茨菲尔特 - 雅各布病是什么?在E200KK的价格.损伤的个人资料.质蛋白质是一种质蛋白质.美国人 美国人 RT-QuICIC

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