在MICAL-1基因中,一种新的拼接变异与有关
Haiyan Yang1, Hongmei Liao1, Siyi Gan1
1Department of Neurology, The Affiliated Children's Hospital Of Xiangya School of Medicine, Central South University(Hunan children's hospital), Changsha, Hunan, China.
European journal of medical genetics
|May 5, 2024
概括
这项研究报告了一名患有中尖 (BECTS) 良性儿童的儿童的新型MICAL1基因突变. 这些发现表明MICAL1变体与发育之间存在潜在联系.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 生殖系MICAL1缺陷很少与有关,它们的基因型-表型相关性尚未得到充分证实.
- 研究新的遗传变异对于理解的分子基础至关重要.
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