研究类别 |
1. Abdulhag, U. N., Soiferman, D., Schueler-Furman, O., Miller, C., Shaag, A., Elpeleg, O., Edvardson, S., Saada, A. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. Europ. J. Hum. Genet. 23: 159-164, 2015. 2. Carrero-Valenzuela, R. D., Quan, F., Lightowlers, R., Kennaway, N. G., Litt, M., Forte, M. Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family. Gene 102: 229-236, 1991.3. Massa, V., Fernandez-Vizarra, E., Alshahwan, S., Bakhsh, E., Goffrini, P., Ferrero, I., Mereghetti, P., D'Adamo, P., Gasparini, P., Zeviani, M. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am. J. Hum. Genet. 82: 1281-1289, 2008. |