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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

✍ Scribed by Fuchs, Tania; Gavarini, Sophie; Saunders-Pullman, Rachel; Raymond, Deborah; Ehrlich, Michelle E; Bressman, Susan B; Ozelius, Laurie J

Book ID
109914387
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
264 KB
Volume
41
Category
Article
ISSN
1061-4036

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By family-based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos-associated protein] domain-containing, apoptosis-associated protein 1) account for a substantial proportion of familial, early-onset, nonfocal, primary dystonia cases (DYT6 dystonia). TH