Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) maps to the SPG11 locus in the majority of cases. Mutations in the KIAA1840 gene, encoding spatacsin, have been shown to underlie SPG11-linked HSP-TCC. The aim of this study was to perform candidate gene analysis i...

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Detalles Bibliográficos
Autores principales: Southgate, Laura, Dafou, Dimitra, Hoyle, Jacqueline, Li, Nan, Kinning, Esther, Critchley, Peter, Németh, Andrea H., Talbot, Kevin, Bindu, Parayil S., Sinha, Sanjib, Taly, Arun B., Raghavendra, Seetharam, Müller, Ferenc, Maher, Eamonn R., Trembath, Richard C.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2944959/
https://www.ncbi.nlm.nih.gov/pubmed/20390432
http://dx.doi.org/10.1007/s10048-010-0243-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2944959/
https://www.ncbi.nlm.nih.gov/pubmed/20390432
http://dx.doi.org/10.1007/s10048-010-0243-8

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