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Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
Am J Hum Genet. 2012 Jan 13;90(1):142-51. doi: 10.1016/j.ajhg.2011.11.027.
Am J Hum Genet. 2012.
PMID: 22243966
Free PMC article.
Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA.
Szklarczyk R, et al.
Genome Biol. 2012 Feb 22;13(2):R12. doi: 10.1186/gb-2012-13-2-r12.
Genome Biol. 2012.
PMID: 22356826
Free PMC article.
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