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解开IDH3A:扩大斑点性伪球瘤的基因型谱

Mirjana Bjeloš1,2,3, Ana Ćurić1,3, Benedict Rak1

  • 1University Eye Department, Reference Center of the Ministry of Health of the Republic of Croatia for Pediatric Ophthalmology and Strabismus, Reference Center of the Ministry of Health of the Republic of Croatia for Inherited Retinal Dystrophies, Reference Center of the Ministry of Health of the Republic of Croatia for Standardized Echography in Ophthalmology, University Hospital "Sveti Duh", Sveti Duh 64, 10000 Zagreb, Croatia.

International journal of molecular sciences
|April 17, 2025
PubMed
概括

这项研究调查了两名IDH3A基因突变的患者,将特定变异与视网膜色素炎 (RP) 和黄斑伪球瘤联系起来. 这些发现澄清了基于IDH3A变种类型的RP90的不同严重程度.

关键词:
缩性缩 (英语:Atrophy atrophy) 是一种损伤.科洛博马 (coloboma) 是一个结肠瘤.基因型 基因型 基因型现象型 现象型 是一种现象型.视网膜炎的颜色化

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