| 1 | COL6A3, DYT27 |
| The role of mutations in COL6A3 in isolated dystonia. | |
| Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner KE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C. | |
| J Neurol 263(4):730-4. doi: 10.1007/s00415-016-8046-y. 2016 | |
| 2 | COL6A3, DYT27 |
| Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia. | |
| Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J. | |
| Am J Hum Genet 96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21. 2015 | |