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Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia
Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-ex...
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| Publicado no: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5701303/ https://ncbi.nlm.nih.gov/pubmed/28652255 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002014 |
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