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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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Detalles Bibliográficos
Publicado en:J Hum Genet
Autores principales: Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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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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