| 1 |
19124644
| 2009 |
Lopez-Gallardo, E., Solano, A., Herrero-Martin, M. D., Martinez-Romero, I., Castano-Perez, M. D., Andreu, A. L., Herrera, A., Lopez-Perez, M. J., Ruiz-Pesini, E., Montoya, J. (2009) NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein Journal of Medical Genetics . 46 (1): 64-67 . |
| 2 |
30763462
| 2019 |
Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |