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ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for pa...
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| Pubblicato in: | J Neurol |
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| Autori principali: | , , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4221650/ https://ncbi.nlm.nih.gov/pubmed/25182700 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-014-7476-7 |
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