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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344291/ https://www.ncbi.nlm.nih.gov/pubmed/30337681 http://dx.doi.org/10.1038/s10038-018-0523-y |