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Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

✍ Scribed by Susan B Bressman; Deborah Raymond; Tania Fuchs; Gary A Heiman; Laurie J Ozelius; Rachel Saunders-Pullman

Book ID
114409190
Publisher
The Lancet
Year
2009
Tongue
English
Weight
195 KB
Volume
8
Category
Article
ISSN
1474-4465

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Mutation screening of the DYT6/THAP1 gen
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✍ Monica Bonetti; Chiara Barzaghi; Francesco Brancati; Alessandro Ferraris; Emanue πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 369 KB

## Abstract Mutations in the __THAP1__ gene on chromosome 8p21‐p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish–Mennonite families and in 12 additional probands of different ancestry. We sequenced the __THAP1__ gene in 158