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MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)
OBJECTIVE: To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded. METHODS: We collected DNA samples of 28 family members, including 7 living affected individual...
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| Veröffentlicht in: | Neurol Genet |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wolters Kluwer
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4991603/ https://ncbi.nlm.nih.gov/pubmed/27583304 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000094 |
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