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Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation
OBJECTIVE: The molecular diagnosis of adult-onset autosomal recessive cerebellar ataxias remains challenging because of genetic heterogeneity. However, recently developed molecular genetic techniques will potentially revolutionise the diagnostic approach. Here we set out to define the genetic basis...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4038496/ https://ncbi.nlm.nih.gov/pubmed/24180463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/01677063.2013.831094 |
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