𝔖 Bobbio Scriptorium
✦   LIBER   ✦

High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

✍ Scribed by Hagenah, J.; Saunders-Pullman, R.; Hedrich, K.; Kabakci, K.; Habermann, K.; Wiegers, K.; Mohrmann, K.; Lohnau, T.; Raymond, D.; Vieregge, P.; Nygaard, T.; Ozelius, L. J.; Bressman, S. B.; Klein, C.


Book ID
118163460
Publisher
Lippincott Williams and Wilkins
Year
2005
Tongue
English
Weight
454 KB
Volume
64
Category
Article
ISSN
0028-3878

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Wide expressivity variation and high but
✍ Antonino Uncini; Maria Vittoria De Angelis; Patrizia Di Fulvio; Michele Ragno; G 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB

## Abstract We describe the clinical and molecular correlates in two Italian families with dopa‐responsive dystonia (DRD) and the same novel mutation of GTP‐cyclohydrolase I (GCH‐I) gene. Thirty‐five subjects were examined and the genotype correlated to phenotype. Childhood onset foot dystonia is p