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Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α(1A) subunit of the P...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5451382/ https://ncbi.nlm.nih.gov/pubmed/28566750 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02554-x |
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