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Updated: Jul 24, 2025

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拉伸激活离子通道TMEM63B与发育性和性脑病变以及渐进性神经退行症有关

Annalisa Vetro1, Cristiana Pelorosso1, Simona Balestrini2

  • 1Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.

American journal of human genetics
|July 8, 2023
PubMed
概括

在TMEM63B基因的突变导致严重的早期发作的神经退行性脑疾病和. 这些遗传变化破坏了离子通道功能,导致受影响个体的神经和血液异常.

关键词:
不正常的髓化.是一种.性脑病 - - 性脑病血清性贫血 血清性贫血是什么婴儿发作 在婴儿发作.离子通道 离子通道泄漏 阴离子电流 泄漏电流透应激的压力 透应激白质异常是白质的异常.

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