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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...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2010
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| Matèries: | |
| Accés en línia: | 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 |
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