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Updated: Jul 9, 2025

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在USH2A中的p.C759F变异是一种致病突变:系统文献综述和667个基因型的元分析

Ji Hoon Han1,2, Francesca Cancellieri1,2, Irene Perea-Romero3,4

  • 1Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.

Ophthalmic research
|November 28, 2023
PubMed
概括

遗传性视网膜疾病的确诊原因是USH2A基因变异p.C759F. 这种突变通过递归遗传模式导致视网膜失明.

关键词:
C759FF 这是一个很好的例子.在Cys759Phe中使用.视网膜炎的颜色素在USH2A中使用.阿舍尔综合征是什么意思阿舍尔综合征是什么意思

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相关概念视频

Translation01:31

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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