Article
[Analysis of mutations and heteroplasmy at mitochondrial DNA 11778 using non-RI single strand conformation polymorphisms in Leber's hereditary optic neuropathy].
Rinsho byori. The Japanese journal of clinical pathology - 1 Jul 1996
Toyo-Oka Y, Wada C, Yamabe H, Inoue M, Ishigaki M, Matsuyama N, Ohnuki Y, Ichibe Y, Wakakura M, Ohtani H
Abstract excerpt
Leber's hereditary optic neuropathy(LHON) is a maternally inherited mitochondrial disease of an acute or subacute bilateral loss of central vision. G to A substitutions at nucleotide position 11778 in mitochondrial DNA(mt DNA) have been identified in approximately 40% to 90% of patients. In this study, regions containing mt DNA 11778 mutations were analyzed by polymerase chain reaction(PCR), non-RI single strand...
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