Title : Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.

Pub. Date : 2002 May

PMID : 12112111






1 Functional Relationships(s)
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Protein Name
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1 This mutation replaces leucine with methionine in a conserved extramembrane loop of the ND1 gene and was absent in 514 normal controls and in 63 Leber"s hereditary optic neuropathy lineages harboring the primary mutations. Leucine mitochondrially encoded NADH dehydrogenase 1 Homo sapiens