A carregar...
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia
The spectrum of mutations (missense, non-sense and splice-site) associated with hereditary spastic paraplegia 4 (HSP-SPG4) (SPG4:OMIM#182601) has suggested that this autosomal dominant disease results from loss of function. Because the protein encoded by SPG4, termed spastin, is a microtubule-severi...
Na minha lista:
| Main Authors: | , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2010
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2893808/ https://ncbi.nlm.nih.gov/pubmed/20430936 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq177 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|