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Updated: Jul 23, 2025

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
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一种新的TUBB4B管病变的临床,遗传和结构特征

Jason R McFadden1, Christina Deanne P Tolete1, Yan Huang1

  • 1NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Molecular genetics and metabolism reports
|July 14, 2023
PubMed
概括

在TUBB4B基因的新遗传变异导致勒伯先天性耳聋与早期发作聋 (LCAEOD),并扩展到包括Fanconi综合征和低酸性耳聋. 这一发现为细胞运输中的微管子功能提供了洞察力.

关键词:
芬科尼综合征 (Fanconi综合征) 是一种这些微管是微管子.罕见疾病是一种罕见的疾病.翻译医学是一种翻译医学.肺结核病变是一种肺结核病变.

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