[A novel mitochondrial DNA (mtDNA) transition (3733G-- > A) inducing the E143 K amino acid change at a very conserved site of the ND1 was identified in a family with six maternally related individuals with Leber's hereditary optic neuropathy (LHON) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE