Two novel mutations ofGARSin Korean families with distal hereditary motor neuropathy type V
Author:
Affiliation:
1. Department of Biological Science; Kongju National University; Gongju; South Korea
2. Department of Neurology; Ewha Womans University School of Medicine; Seoul; South Korea
3. Mokpo National University; Muan; South Korea
Publisher
Wiley
Subject
Clinical Neurology,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1529-8027.2012.00442.x/fullpdf
Reference10 articles.
1. The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy;Abe;J Hum Genet,2009
2. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V;Antonellis;Am J Hum Genet,2003
3. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons;Antonellis;J Neurosci,2006
4. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease;Choi;Hum Mutat,2012
5. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V;Dubourg;Neurology,2006
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