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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2
BACKGROUND: The autosomal recessively inherited ataxia with oculomotor apraxia 2 (AOA2) is a neurodegenerative disorder characterized by juvenile or adolescent age of onset, gait ataxia, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum AFP levels. AOA2 is ca...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2009
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749023/ https://www.ncbi.nlm.nih.gov/pubmed/19744353 http://dx.doi.org/10.1186/1471-2350-10-87 |