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Updated: Jun 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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新变种扩大了COQ7缺乏症的神经学表型

María Alcázar Fabra1,2, Abraham J Paredes-Fuentes3,4, Manuel Torralba Carnerero1

  • 1Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.

Journal of inherited metabolic disease
|July 8, 2024
PubMed
概括

在COQ7突变导致初级辅酶Q10 (CoQ10) 缺乏,导致神经系统疾病. 这项研究详细介绍了新的COQ7突变,揭示了特定的遗传变异如何影响疾病严重程度和治疗反应.

关键词:
在COQ7中,COQ7是在 CoQ10 中,线粒体疾病是线粒体疾病.神经系统疾病 神经系统疾病

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