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Updated: May 25, 2025

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中心层结构完整性缺陷是水质综合征的一个关键特征

Ana Curinha1, Zhaoyu Huang1, Taylor Anglen2

  • 1Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

The Journal of cell biology
|February 26, 2025
PubMed
概括

水素综合征 (HLS) 是一种致命的遗传疾病. 在HYLS1蛋白中发生的突变会破坏中心球的完整性,损害乳毛形成并导致小鼠的发育缺陷,从而提供了对HLS病原学的见解.

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