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Updated: May 16, 2025

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HPDL变体类型与临床疾病的发病和严重程度相关

Eun Hye Lee1,2, Olivia Kim-Mcmanus3, Jennifer H Yang3

  • 1Rady Children's Institute for Genomic Medicine, San Diego, California, USA.

Annals of clinical and translational neurology
|May 14, 2025
PubMed
概括

在HPDL的遗传变异导致线粒体脑病变. 截断变体和特定的误解变体与严重的,早期发病的疾病有关,而其他误解变体与较温和的表现相关.

关键词:
4-基基酸盐是一种类似于二氧化基酶的蛋白质.在 HPDL 的情况下.脑病变 - - 脑病变是一种脑病变.遗传性性残残疾人遗传性残疾人线粒体中的线粒体.

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