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Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome seq...
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| Publicado en: | J Hum Genet |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6344291/ https://ncbi.nlm.nih.gov/pubmed/30337681 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-018-0523-y |
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