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Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology

Charcot–Marie–Tooth (CMT) neuropathies are collectively the most common hereditary neurological condition and a major health burden for society. Dominant mutations in the gene GARS, encoding the ubiquitous enzyme, glycyl-tRNA synthetase (GlyRS), cause peripheral nerve degeneration and lead to CMT di...

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Detalles Bibliográficos
Autores principales: Grice, Stuart J., Sleigh, James N., Motley, William W., Liu, Ji-Long, Burgess, Robert W., Talbot, Kevin, Cader, M. Zameel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492401/
https://www.ncbi.nlm.nih.gov/pubmed/25972375
http://dx.doi.org/10.1093/hmg/ddv176