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P151 A homozygous THAP1 mutation as cause of early-onset generalized dystonia

✍ Scribed by K. Lohmann; A. Ramirez; F.J. Kaiser; K. Shafiee; A. Erogullari; N. Brüggemann; S. Winkler; I. Bahman; A. Osmanovic; M. Shafa; K.P. Bhatia; H. Najmabadi; S.A. Schneider; C. Klein


Book ID
119192746
Publisher
Elsevier
Year
2011
Tongue
English
Weight
35 KB
Volume
1
Category
Article
ISSN
2210-5336

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Homozygous THAP1 mutations as cause of e
✍ Susanne A. Schneider; Alfredo Ramirez; Kaveh Shafiee; Frank J. Kaiser; Alev Erog 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 114 KB

## Abstract To identify the underlying genetic cause in a consanguineous family with apparently recessively inherited dystonia, we performed genome‐wide homozygosity mapping. This revealed 2 candidate regions including the __THAP1__ gene, where heterozygous mutations cause dystonia 6. A homozygous