A carregar...
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
Complicated hereditary spastic paraplegia (HSP) presents with complex neurological and nonneurological manifestations. We report a patient with autosomal recessive (AR) HSP in whom laboratory investigations revealed hypobetalipoproteinemia raising the possibility of a shared pathophysiology of these...
Na minha lista:
| Publicado no: | Case Rep Genet |
|---|---|
| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi Publishing Corporation
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4439468/ https://ncbi.nlm.nih.gov/pubmed/26064709 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/219691 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|