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Updated: Jul 6, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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与VPS13D相关的神经发育和运动障碍的临床和分子异质性

Tipu Sultan1, Giovanna Scorrano2, Marta Panciroli3

  • 1Department of Pediatric Neurology, Children Hospital Lahore, Main Boulevard Gulberg, Nishtar Town, Lahore, Punjab 54000, Pakistan.

Gene
|December 31, 2023
PubMed
概括

研究人员发现了一种新的VPS13D基因变异,在巴基斯坦一家家庭中导致严重的神经发育障碍和超运动运动. 这一发现扩大了对VPS13D相关疾病及其各种临床表现的理解.

关键词:
科雷亚 科雷亚 科雷亚是一种病.线粒体的功能运动障碍 运动障碍神经发育障碍 神经发育障碍这就是VSP13D.真空蛋白质分类 13 排序

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