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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 30, 2023. (Total: 223474Documents)
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Query Trace: Optic Atrophy and ND5[original query]
The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.
European journal of human genetics : EJHG 2007 Feb 15 (2): 155-61.
Ruiter E Mariken, Siers Marloes H, van den Elzen Christa, van Engelen Baziel G, Smeitink Jan A M, Rodenburg Richard J, Hol Frans
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