A Major Determinant for Binding and Aminoacylation of tRNA(Ala) in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is the most common cause of inherited peripheral neuropathy, with an estimated frequency of 1/2500. We studied a large family with 17 patients affected by the axonal form of CMT (CMT2). Analysis of the 15 genes or loci known to date was negative. Genome-wide genotyp...

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Detalhes bibliográficos
Main Authors: Latour, Philippe, Thauvin-Robinet, Christel, Baudelet-Méry, Chantal, Soichot, Pierre, Cusin, Veronica, Faivre, Laurence, Locatelli, Marie-Claire, Mayençon, Martine, Sarcey, Annie, Broussolle, Emmanuel, Camu, William, David, Albert, Rousson, Robert
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2801750/
https://ncbi.nlm.nih.gov/pubmed/20045102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.12.005
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