Mutation Screening of Spastin, Atlastin, and REEP1 in Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. Over 40 chromosomal loci have been identified for autosomal dominant, recessive, and X-linked HSP. Mutations in the genes atlas...

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Detalhes bibliográficos
Main Authors: McCorquodale, Donald S., Ozomaro, Uzoezi, Huang, Jia, Montenegro, Gladys, Kushman, Arielle, Citrigno, Luigi, Price, Justin, Speziani, Fiorella, Pericak-Vance, Margaret A., Züchner, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2990804/
https://ncbi.nlm.nih.gov/pubmed/20718791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01501.x
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