Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromoso...

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主要な著者: Antonellis, Anthony, Ellsworth, Rachel E., Sambuughin, Nyamkhishig, Puls, Imke, Abel, Annette, Lee-Lin, Shih-Queen, Jordanova, Albena, Kremensky, Ivo, Christodoulou, Kyproula, Middleton, Lefkos T., Sivakumar, Kumaraswamy, Ionasescu, Victor, Funalot, Benoit, Vance, Jeffery M., Goldfarb, Lev G., Fischbeck, Kenneth H., Green, Eric D.
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2003
主題:
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オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180282/
https://ncbi.nlm.nih.gov/pubmed/12690580
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