Index | PMID | Date | Reference |
---|---|---|---|
1 | 8890791 | 1996 | Hirt, L., Magistretti, P.J., Bogousslavsky, J., Boulat, O., Borruat, F.X. (1996) Large deletion (7.2 kb) of mitochondrial DNA with novel boundaries in a case of progressive external ophthalmoplegia Journal of Neurology, Neurosurgery and Psychiatry . 61 (4): 422-423 . |
2 | 22277967 | 2012 | Calvo, S. E., Compton, A. G., Hershman, S. G., Lim, S. C., Lieber, D. S., Tucker, E. J., Laskowski, A., Garone, C., Liu, S., Jaffe, D. B., Christodoulou, J., Fletcher, J. M., Bruno, D. L., Goldblatt, J., Dimauro, S., Thorburn, D. R., Mootha, V. K. (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing Science Translational Medicine . 4 (118): 118ra10 . |