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pro vyhledávání: '"J. L. Nieto-González"'
Autor:
E. Servián-Morilla, M. Cabrera-Serrano, E. Rivas-Infante, A. Carvajal, P. J. Lamont, A. L. Pelayo-Negro, G. Ravenscroft, R. Junckerstorff, J. M. Dyke, S. Fletcher, A. M. Adams, F. Mavillard, M. A. Fernández-García, J. L. Nieto-González, N. G. Laing, C. Paradas
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
Abstract TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain
Externí odkaz:
https://doaj.org/article/347882b61d064fd4ae84598c7da1fafa
