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EFFECT OF CLINICAL MUTATIONS ON FUNCTIONALITY OF THE HUMAN RIBOFLAVIN TRANSPORTER-2 (hRFT-2)
The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by ponto-bulbar palsy, bilateral sensorineural deafness, and respiratory insufficiency. Recent genetic studies have identified mutations in the C20orf54 gene, which encodes the human riboflavin (RF) transporte...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3309148/ https://ncbi.nlm.nih.gov/pubmed/22273710 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.12.021 |
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