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Updated: Jun 23, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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在GNAO1中进行临床和分子分析允许表型-基因型相关性

Amaia Lasa-Aranzasti1,2,3,4,5, Yonika A Larasati6, Juliana da Silva Cardoso2,7

  • 1Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.

Movement disorders : official journal of the Movement Disorder Society
|June 17, 2024
PubMed
概括

在GNAO1的遗传缺陷导致神经发育障碍. 这项研究将特定的GNAO1变异与不同的临床特征和分子机制联系起来,从而提高对这些复杂疾病的理解.

关键词:
GNAO1 致病变体的病原性变体G-蛋白质是一种G蛋白质.临床现象型临床现象型分子病因学分子病因学运动障碍 运动障碍

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