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PubMed (OMIM) for id: 4716
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Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431.
Hum Mol Genet. 2017.
PMID: 28040730
Free PMC article.
Human mitochondrial complex I in health and disease.
Smeitink J, van den Heuvel L.
Smeitink J, et al.
Am J Hum Genet. 1999 Jun;64(6):1505-10. doi: 10.1086/302432.
Am J Hum Genet. 1999.
PMID: 10330338
Free PMC article.
Review.
No abstract available.
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cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA.
Loeffen JL, et al.
Biochem Biophys Res Commun. 1998 Dec 18;253(2):415-22. doi: 10.1006/bbrc.1998.9786.
Biochem Biophys Res Commun. 1998.
PMID: 9878551
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Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain.
Emahazion T, Beskow A, Gyllensten U, Brookes AJ.
Emahazion T, et al.
Cytogenet Cell Genet. 1998;82(1-2):115-9. doi: 10.1159/000015082.
Cytogenet Cell Genet. 1998.
PMID: 9763677
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