Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Brown–Vialetto–Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (formerly C20orf54), one of three known riboflavin transp...

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Detalhes bibliográficos
Main Authors: Johnson, Janel O., Gibbs, J. Raphael, Megarbane, Andre, Urtizberea, J. Andoni, Hernandez, Dena G., Foley, A. Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M., Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3437022/
https://ncbi.nlm.nih.gov/pubmed/22740598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws161
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