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Updated: Jul 2, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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对CNGA3相关的染色体病患者变体的结构功能分析补充了临床基因组学在致病性确定中的作用

Ditte K Rasmussen1,2,3, Young Joo Sun1,2, Joel A Franco1,2

  • 1Molecular Surgery Laboratory, Stanford University, Palo Alto, CA, USA.

Orphanet journal of rare diseases
|May 30, 2025
PubMed
概括

患有未知CNGA3变异的阿克罗马托普西亚患者可能会从基因治疗中受益. 蛋白形分析显示,大多数变异与已知的致病突变具有相同的功能后果,这表明类似的分子病理.

关键词:
亚克罗马托普西亚是一种无色化症.在CNGA3中,CNGA3是指CNGA3的代码.颜色视力缺陷 颜色视力缺陷循环核酸门离子通道基因检测是一种基因检测.基因疗法是一种基因疗法.在形分析中进行了分析.分子结构分子结构.变体分类的变体分类

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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