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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2009
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2661056/
https://ncbi.nlm.nih.gov/pubmed/19284587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-24
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