在AGBL5中发生的突变与色素视网膜炎相关
Diego I Paredes1,2, Nicholas R Bello3, Jenina E Capasso1
1Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.
Ophthalmic genetics
|December 11, 2023
概括
两名患有视网膜色素炎 (RP) 的患者显示出新的AGBL5基因变异. 这些发现将AGBL5病原体变异与自身逆性RP联系起来,扩大了对其遗传原因的了解.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 皮质视网膜炎 (RP) 是视力障碍的主要遗传原因,以渐进的视力丧失为标志.
- RP表现出显著的遗传异质性,许多基因与其病变产生有关.
- 在AGBL5基因的致病变体很少被报告为RP的原因.
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