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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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Detalhes bibliográficos
Main Authors: Depienne, C, Tallaksen, C, Lephay, J Y, Bricka, B, Poea‐Guyon, S, Fontaine, B, Labauge, P, Brice, A, Durr, A
Formato: Artigo
Idioma:English
Publicado em: BMJ Group 2006
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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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