An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth type 2D or distal spinal muscular atrophy type V. Here, we characterise a new mouse mutant, Gars(C201R), with a point mutati...

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Hlavní autoři: Achilli, Francesca, Bros-Facer, Virginie, Williams, Hazel P., Banks, Gareth T., AlQatari, Mona, Chia, Ruth, Tucci, Valter, Groves, Michael, Nickols, Carole D., Seburn, Kevin L., Kendall, Rachel, Cader, Muhammed Z., Talbot, Kevin, van Minnen, Jan, Burgess, Robert W., Brandner, Sebastian, Martin, Joanne E., Koltzenburg, Martin, Greensmith, Linda, Nolan, Patrick M., Fisher, Elizabeth M. C.
Médium: Artigo
Jazyk:Inglês
Vydáno: The Company of Biologists Limited 2009
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2707104/
https://ncbi.nlm.nih.gov/pubmed/19470612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.002527
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