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Exome sequencing identifiesGCDH(glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

✍ Scribed by Jose Felix Marti-Masso; Javier Ruiz-Martínez; Vladimir Makarov; Adolfo López de Munain; Ana Gorostidi; Alberto Bergareche; Seungtai Yoon; Joseph D. Buxbaum; Coro Paisán-Ruiz

Book ID: 106135207
Publisher: Springer
Year: 2011
Tongue: English
Weight: 396 KB
Volume: 131
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-011-1086-6

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Homozygous THAP1 mutations as cause of e

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

✍ 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