Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

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Life Sciences, Biotechnology, Molecular Biology +6

The Whole Structure of the 13-Subunit Oxidized Cytochrome c Oxidase at 2.8 Å

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Life Sciences, Biochemistry, Biophysics +16

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

Eric M. Sobel, Kenneth Lange · PubMed · 1996 · 1.2K citations · Full text

Life Sciences, Biostatistics, Genetics +17

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo et al. · The American Journal of Human Genetics · 1998 · 529 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients

Matthew McKenzie, Michael Lazarou, David R. Thorburn et al. · Journal of Molecular Biology · 2006 · 427 citations · Full text

Life Sciences, Biochemistry, Cell Biology +12