相关实验视频

Updated: Jul 1, 2026

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
06:39

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

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波多黎各与EYS基因突变相关的视网膜色素炎:一个病例系列

Armando J Ruiz-Justiz1, Leonardo J Molina Thurin2, Andres Emanuelli1

  • 1Department of Ophthalmology, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.

Cureus
|November 26, 2024
PubMed
概括

这项研究确定了EYS基因的突变,导致波多黎各患者的视网膜色素炎 (RP). 在这个群体中发现的最常见的突变是c.5928-2A>G变异.

关键词:
异常的拼接方式自体复发性视网膜炎 颜色素眼睛 基因 基因 眼睛基因分析 遗传分析罕见的遗传疾病 罕见的遗传疾病切断突变可能会导致突变.

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