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Updated: Sep 13, 2025

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由一种罕见突变引起的遗传性转基因氨基粉症

Jake Goldstein1, Leah Stinson2, Konstantinos Sideris3

  • 1Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA jakegold0826@outlook.com.

BMJ case reports
|July 25, 2025
PubMed
概括

基因检测对于诊断多系统性疾病 - - 跨甲基素氨基粉症 (ATTR) 至关重要. 识别像p.Gly77Arg这样的特定突变可以揭示家族联系和疾病进展的多样性.

关键词:
心血管医学 心血管医学遗传学 是一个遗传学.心脏衰竭是因为心脏衰竭.神经学 神经学

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