Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

Charcot-Marie-Tooth (CMT) disease comprises a genetically and clinically heterogeneous group of peripheral nerve disorders characterized by impaired distal motor and sensory function. Mutations in three genes encoding aminoacyl-tRNA synthetases (ARSs) have been implicated in CMT disease primarily as...

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Main Authors: McLaughlin, Heather M., Sakaguchi, Reiko, Liu, Cuiping, Igarashi, Takao, Pehlivan, Davut, Chu, Kristine, Iyer, Ram, Cruz, Pedro, Cherukuri, Praveen F., Hansen, Nancy F., Mullikin, James C., Biesecker, Leslie G., Wilson, Thomas E., Ionasescu, Victor, Nicholson, Garth, Searby, Charles, Talbot, Kevin, Vance, Jeffrey M., Züchner, Stephan, Szigeti, Kinga, Lupski, James R., Hou, Ya-Ming, Green, Eric D., Antonellis, Anthony
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2948804/
https://ncbi.nlm.nih.gov/pubmed/20920668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.09.008
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