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Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
BACKGROUND: SPG4 encodes spastin, a member of the AAA protein family, and is the major gene responsible for autosomal dominant spastic paraplegia. It accounts for 10–40% of families with pure (or eventually complicated) hereditary spastic paraparesis (HSP). OBJECTIVE: To assess the frequency of SPG4...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
BMJ Group
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2563242/ https://ncbi.nlm.nih.gov/pubmed/16055926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.035311 |
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