Article
MGB probe assay for rapid detection of mtDNA11778 mutation in the Chinese LHON patients by real-time PCR.
Journal of Zhejiang University. Science. B - 1 Aug 2008
Wang Jian-yong, Gu Yang-shun, Wang Jing, Tong Yi, Wang Ying, Shao Jun-bing, Qi Ming
Abstract excerpt
OBJECTIVE: Leber's hereditary optic neuropathy (LHON) is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA (mtDNA). Many unsolved questions regarding the penetrance and pathophysiological mechanism of LHON demand efficient and reliable mutation testing. This study aims to develop a minor groove binder (MGB) probe assay for rapid detection of mtDNA11778 mutation...
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