Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Pitceathly, R. D. S.; Smith, C.; Fratter, C.; Alston, C. L.; He, L.; Craig, K.; Blakely, E. L.; Evans, J. C.; Taylor, J.; Shabbir, Z.; Deschauer, M.; Pohl, U.; Roberts, M. E.; Jackson, M. C.; Halfpenny, C. A.; Turnpenny, P. D.; Lunt, P. W.; Hanna, M. G.; Schaefer, A. M.; McFarland, R.; Horvath, R.; Chinnery, P. F.; Turnbull, D. M.; Poulton, J.; Taylor, R. W.; Gorman, G. S.

期刊名称Brain
作者Pitceathly, R. D. S.; Smith, C.; Fratter, C.; Alston, C. L.; He, L.; Craig, K.; Blakely, E. L.; Evans, J. C.; Taylor, J.; Shabbir, Z.; Deschauer, M.; Pohl, U.; Roberts, M. E.; Jackson, M. C.; Halfpenny, C. A.; Turnpenny, P. D.; Lunt, P. W.; Hanna, M. G.; Schaefer, A. M.; McFarland, R.; Horvath, R.; Chinnery, P. F.; Turnbull, D. M.; Poulton, J.; Taylor, R. W.; Gorman, G. S.
卷第135卷
期第11期
印刷ISSN0006-8950
电子ISSN1460-2156
文件大小777.88KB
发表时间2012-11-01
DOI10.1093/brain/aws231
页码3392-3403

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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics