Title | Creator | Description | Identifier | ||
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1 | Heteroplasmy in Leber's Hereditary Optic Neuropathy | Kyle H. Smith, MD; Donald R. Johns; Neil R. Miller; Katrinka Heher | Leber's hereditary optic neuropathy (LHON) is characterized by maternal transmission of mutant mitochondrial DNA. About 50% of LHON patients have a point mutation at position 11778 in the ND_4 gene. Heteroplasmy is the presence of both normal and mutant mitochondrial DNA in tissue from a given patie... | 19920224_nanos_researchpres_05 |