𝔖 Bobbio Scriptorium
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IGF1R mutations as cause of SGA

✍ Scribed by J. Klammt; W. Kiess; R. Pfäffle


Book ID
116305033
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
677 KB
Volume
25
Category
Article
ISSN
1521-690X

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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