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Updated: Jul 12, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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在SORT1中的Missense变体与阿米什人群中的LDL-C有关

Kelly A Mitok1, Kathryn L Schueler1, Sarah M King2

  • 1Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.

Journal of lipid research
|November 1, 2023
PubMed
概括

在SORT1基因中的遗传变异影响低密度脂蛋白胆固醇 (LDL-C) 水平. 这项研究确定了与LDL-C相关的人类特定的SORT1编码变异,并探索了它们的影响,支持SORT1作为胆固醇调节中的关键基因.

关键词:
这就是LDL/新陈代谢.SORT1 排序1 排序1 排序1 排序1胆固醇/新陈代谢脱脂症症是什么 脱脂症是什么遗传关联 遗传关联 遗传关联遗传链接 遗传联系脂肪蛋白/新陈代谢脂蛋白/受体的使用.错误的意义的变体这种类型的LINK.

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