A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!