1. A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease. Issue 2 (17th January 2008) Authors: von Mering, M; Gabriel, H; Opladen, T; Hoffmann, G F; Storch, A Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 79:Issue 2(2008) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗