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    • Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 

      Meyer, E.; Carss, K. J.; Rankin, Julia; Nichols, J. M. E.; Grozeva, D.; Joseph, A. P.; Mencacci, N. E.; Papandreou, A.; Ng, J.; Barral, S.; Ngoh, A.; Ben-Pazi, H.; Willemsen, M. A.; Arkadir, D.; Barnicoat, A.; Bergman, H.; Bhate, S.; Boys, A.; Darin, N.; Foulds, N.; Gutowski, Nicholas J.; Hills, A.; Houlden, H.; Hurst, J. A.; Israel, Z.; Kaminska, M.; Limousin, P.; Lumsden, D.; McKee, S. A.; Misra, S.; Mohammed, S. S.; Nakou, V.; Nicolai, J.; Nilsson, M.; Pall, H.; Peall, K. J.; Peters, G. B.; Prabhakar, P.; Reuter, M. S.; Rump, P.; Segel, R.; Sinnema, M.; Smith, M.; Turnpenny, Peter D.; White, S. M.; Wieczorek, D.; Wiethoff, S.; Wilson, B. T.; Winter, G.; Wragg, C.; Pope, S.; Heales, S. J. H.; Morrogh, D.; Pittman, A.; Carr, L. J.; Perez-Dueñas, B.; Lin, J-P; Reis, A.; Gahl, W. A.; Toro, C.; Bhatia, K. P.; Wood, N. W.; Kamsteeg, E-J; Chong, W. K.; Gissen, P.; Topf, M.; Dale, R. C.; Chubb, J.R.; Raymond, F. L.; Kurian, M. A. (Nature, 2016-12-19)
      Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins ...