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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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| 主要な著者: | , , , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2012
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| オンライン・アクセス: | 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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