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男试验者患有难以治愈的发作和GLUL中的de novo开始-codon破坏变异

Elizabeth Carbonell1, Sarah L Stenton2, Vijay S Ganesh3

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

HGG advances
|February 22, 2025
PubMed
概括

在GLUL的遗传变异导致严重的神经障碍. 这项研究报告了第一例男性患有新型GLUL变异的病例,出现和发育迟缓,扩大了对这种疾病的理解.

关键词:
在5'UTR中.格鲁尔格鲁尔格鲁尔格鲁尔格鲁尔格鲁尔格鲁尔格鲁尔在新的 de novo.谷氨胺合成酶的使用发作 发作 这些开始 codon 开始 codon开始损失的开始损失.

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