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Article

Rapid and Sensitive Diagnosis of Leber Hereditary Optic Neuropathy Variants Using CRISPR/Cas12a Detection.

The Journal of molecular diagnostics : JMD - 1 Aug 2023

Wan Xiaoling, Chen Jieqiong, Wu Yidong, Chen Zhixuan, Liu Yin, Li Tong, Sun Junran, Zhang Ting, Zhou Fuling, Huang Xingxu, Li Yang, Wang Xinjie, Sun Xiaodong

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is the most common maternally inherited mitochondrial disease, with >90% of cases harboring one of three point variants (m.3460G>A, m.11778G>A, and m.14484T>C). Rapid and sensitive diagnosis of LHON variants is urgently needed for early diagnosis and timely treatment after onset, which is currently limited. Herein, we adapted the Cas12a-based DNA detection platform for...

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Identifiers

PMID: 37517824
DOI: 10.1016/j.jmoldx.2023.04.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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