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Updated: May 11, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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有针对性的长时间读取cDNA测序揭示了导致视网膜变的新型拼接改变病原体变异,导致视网膜变

Dalila Capasso1, Roberta Zeuli2, Gavin Arno3

  • 1Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomic and Experimental Medicine Program, Naples, Italy.

HGG advances
|April 19, 2025
PubMed
概括

有针对性的长读cDNA测序有效地识别了继承性视网膜疾病 (IRDs) 中的拼接改变变异. 这种方法有助于诊断以前无法解释的IRD病例,因为它揭示了NMNAT1.1.等基因中的新型拼接缺陷.

关键词:
在NMNAT1中使用NMNAT1.基因诊断 基因诊断 基因诊断遗传性视网膜疾病 遗传性视网膜疾病长时间阅读cDNA测序.移动元件插入的插件

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