1 | MELAS, MT-ND1, NDUFV3 |
The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I. | |
Kervinen M, Hinttala R, Helander HM, Kurki S, Uusimaa J, Finel M, Majamaa K, Hassinen IE. | |
Hum Mol Genet 15(17):2543-52. Epub 2006 Jul 18. 2006 | |
2 | MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, NDUFA10, NDUFA3, NDUFA7, NDUFA9, NDUFB10, NDUFB4, NDUFB5, NDUFB8, NDUFC2, NDUFS1, NDUFS7, NDUFS8, NDUFV2, NDUFV3 |
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. | |
Loeffen JL, et al. | |
Biochem Biophys Res Commun 253(2):415-22. 1998 | |
3 | NDUFV3 |
Molecular cloning and characterization of the human mitochondrial NADH : oxidoreductase 10-kDa gene (NDUFV3). | |
de Coo RF, Buddiger P, Smeets HJ, van Oost BA. | |
Genomics 45(2):434-7. 1997 | |