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Mutation screening of the DYT6/THAP1gene in Serbian patients with primary dystonia

✍ Scribed by Valerija S. Dobričić, Nikola D. Kresojević, Marina V. Svetel…

Book ID
120898446
Publisher
Springer
Year
2012
Tongue
English
Weight
203 KB
Volume
260
Category
Article
ISSN
0340-5354

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Mutation screening of the DYT6/THAP1 gen
Mutation screening of the DYT6/THAP1 gene in Italy
✍ Monica Bonetti; Chiara Barzaghi; Francesco Brancati; Alessandro Ferraris; Emanue 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 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