High-throughput mutational analysis of TOR1A in primary dystonia

BACKGROUND: Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some...

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Detalles Bibliográficos
Autores principales: Xiao, Jianfeng, Bastian, Robert W, Perlmutter, Joel S, Racette, Brad A, Tabbal, Samer D, Karimi, Morvarid, Paniello, Randal C, Blitzer, Andrew, Batish, Sat Dev, Wszolek, Zbigniew K, Uitti, Ryan J, Hedera, Peter, Simon, David K, Tarsy, Daniel, Truong, Daniel D, Frei, Karen P, Pfeiffer, Ronald F, Gong, Suzhen, Zhao, Yu, LeDoux, Mark S
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2661056/
https://www.ncbi.nlm.nih.gov/pubmed/19284587
http://dx.doi.org/10.1186/1471-2350-10-24

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