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Updated: Jul 2, 2025

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一个中国患者的新型ATF6同卵性变异在阿克罗马托普西亚

Shijing Wu1, Yinhui Yu1, Yao Wang1

  • 1Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases, Zhejiang Provincial Engineering Institute on Eye Diseases, Zhejiang University, Hangzhou, Zhejiang, China.

Ophthalmic genetics
|February 29, 2024
PubMed
概括

阿克罗马托普西亚 (ACHM) 是一种罕见的遗传疾病. 在一名中国患者身上发现了一种ATF6基因的新型拼接变异,导致ACHM.

关键词:
在ATF6中使用ATF6.亚克罗马托普西亚是一种无色化症.遗传视网膜疾病 遗传视网膜疾病

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