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Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders
BACKGROUND: Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied 3 families diagnosed with ARCA. METHODS: To determine the gene lesions responsible for their disorders, we performed high density SNP genotyping and exome seq...
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| Τόπος έκδοσης: | Eur J Neurol |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2012
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4669564/ https://ncbi.nlm.nih.gov/pubmed/23043354 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1468-1331.2012.03883.x |
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