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Updated: Jun 10, 2025

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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在TTC37中隐藏的异常转录会导致三肝肠综合征
José Francisco da Silva Franco1, Raquel Leão Neves1, Alef Nascimento Menezes1
1Universidade Federal de São Paulo, São Paulo, Brazil.
Clinical genetics
|October 11, 2024
概括
诊断胸部埃勒斯-丹洛斯综合征 (THES) 需要先进的分子分析. 整体外基因组测序 (WES) 和全基因组测序 (WGS) 是不够的,需要RNA和蛋白质研究来确定THES诊断.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 医学诊断 医学诊断 医学诊断
背景情况:
- 对胸部埃勒斯-丹洛斯综合征 (THES) 的临床怀疑提出了诊断挑战.
- 最初的诊断方法涉及复杂的遗传分析.
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