Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

BACKGROUND: Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). Recently, mutations in the REEP1 gene were identified to cause autosomal dominant HSP type SPG31. The purpose...

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Detalles Bibliográficos
Autores principales: Schlang, Katharina J, Arning, Larissa, Epplen, Joerg T, Stemmler, Susanne
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2492855/
https://www.ncbi.nlm.nih.gov/pubmed/18644145
http://dx.doi.org/10.1186/1471-2350-9-71

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