Article
[Mutation analysis in a family of Leber hereditary optic neuropathy].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Dec 2011
She Chong-yang, Gu Hong, Xu Jun, Ma Kai, Liu Ning-pu
Abstract excerpt
OBJECTIVE: To identify the disease-causing mutation in a family of Leber hereditary optic neuropathy (LHON). METHODS: Clinical data and family information were collected. Peripheral venous blood was drawn from patients and family members who agreed to donate the blood samples. Genomic DNA was extracted from blood leukocytes. Three primary mitochondrial DNA (mtDNA) mutations, G3460A, G11778A, and T14484C were...
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