Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs. It is caused by mutations in the gene encoding spastin, a member of the AA...

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Detalhes bibliográficos
Main Authors: Svenson, Ingrid K., Ashley-Koch, Allison E., Gaskell, P. Craig, Riney, Travis J., Cumming, W. J. Ken, Kingston, Helen M., Hogan, Edward L., Boustany, Rose-Mary N., Vance, Jeffery M., Nance, Martha A., Pericak-Vance, Margaret A., Marchuk, Douglas A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226088/
https://ncbi.nlm.nih.gov/pubmed/11309678
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