High-throughput mutational analysis of <it>TOR1A </it>in primary dystonia

• Hlavní autoři: Truong Daniel D (Autor), Tarsy Daniel (Autor), Simon David K (Autor), Hedera Peter (Autor), Uitti Ryan J (Autor), Wszolek Zbigniew K (Autor), Batish Sat (Autor), Blitzer Andrew (Autor), Paniello Randal C (Autor), Karimi Morvarid (Autor), Tabbal Samer D (Autor), Racette Brad A (Autor), Perlmutter Joel S (Autor), Bastian Robert W (Autor), Xiao Jianfeng (Autor), Frei Karen P (Autor), Pfeiffer Ronald F (Autor), Gong Suzhen (Autor), Zhao Yu (Autor), LeDoux Mark S (Autor)
• Médium: Kniha
• Vydáno: BMC, 2009-03-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Although the c.904_906delGAG mutation in Exon 5 of <it>TOR1A </it>typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.86...