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Updated: May 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在X链接上腺核胆固醇变异中的新型ABCD1变异

Sen-Wei Dong1, Li-Mei Xiao1, Yu-Hao Sun1

  • 1Department of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Clinical genetics
|April 10, 2025
PubMed
概括

这项研究确定了X-链接上腺核衰竭 (X-ALD) 患者的五种新的ABCD1基因突变,扩大了这种神经退行性疾病的已知的遗传变异和临床概况.

关键词:
这是ABCD1基因.与X相关的 adrenoleukodystrophy (X-ALD) (X-ALD) 相关的 adrenoleukodystrophy (X-ALD) 相关的 adrenoleukodystrophy (X-ALD) 相关的 adrenoleukodystrophy (X-ALD) 相关的 adrenoleukodystrophy) 相关的 adrenoleukodystrophy (X-ALD) 相关的 adrenoleukodystrophy (X-ALD) 相关的 adrenoleukodystrophy (X-ALD) 相关的上腺细胞神经病变 (AMN)儿童大脑ALD (CCALD) 是一个疾病.蛋白质的稳定性 蛋白质的稳定性

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