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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2017347785> ?p ?o ?g. }

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• W2017347785 abstract "Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease." @default.
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• W2017347785 date "1988-12-09" @default.
• W2017347785 modified "2023-10-10" @default.
• W2017347785 title "Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy" @default.
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• W2017347785 doi "https://doi.org/10.1126/science.3201231" @default.
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