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Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebe...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer US
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3824261/ https://ncbi.nlm.nih.gov/pubmed/23912307 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-013-0507-6 |
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