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Updated: Jul 28, 2025

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专家小组策划了113个主要线粒体疾病基因,用于利氏综合征谱

Elizabeth M McCormick1, Kierstin Keller2, Julie P Taylor3

  • 1Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.

Annals of neurology
|May 31, 2023
PubMed
概括

确定雷氏综合征谱 (LSS) 的基因疾病关系 (GDR) 对准确的诊断和治疗至关重要. 这项研究策划了100多种遗传原因,将许多归类为绝对或中度,帮助初级线粒体疾病的精准医学.

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