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An ND-6 mitochondrial DNA mutation associated with leber he..:

Johns, Donald R. ; Neufeld, Michael J. ; Park, Raymond D.
Biochemical and Biophysical Research Communications.  187 (1992)  3 - p. 1551-1557 , 1992
Link: https://doi.org/10.1016/0006-291x(92)90479-5