Article
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
Genomics - 15 Dec 1999
Ozelius L J, Page C E, Klein C, Hewett J W, Mineta M, Leung J, Shalish C, Bressman S B, de Leon D, Brin M F, Fahn S, Corey D P, Breakefield X O
Abstract excerpt
Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a glutamic acid in the carboxy terminal of the encoded protein, torsin A. TOR1A and its homologue TOR1B (alias DQ1) are located adjacent to each other on human chromosome 9q34. Both genes comprise five similar exons; each gene spans a 10-kb region....
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