Article
Cytochrome b mutations in Leber hereditary optic neuropathy.
Biochemical and biophysical research communications - 31 Dec 1991
Johns D R, Neufeld M J
Abstract excerpt
New mutations were discovered in the apocytochrome b gene in Leber hereditary optic neuropathy probands who did not harbor either of the two known Complex I mutations (positions 3,460 and 11,778). A mutation at position 15,257 was found in eight independent probands which changed a highly conserved aspartate to asparagine, was not found in controls, and appears to be pathogenetically significant. The 15,257...
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