1. A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. Issue 9 (5th September 2003) Authors: Yzer, S; van den Born, L I; Schuil, J; Kroes, H Y; van Genderen, M M; Boonstra, F N; van den Helm, B; Brunner, H G; Koenekoop, R K; Cremers, F P M Journal: Journal of medical genetics Issue: Volume 40:Issue 9(2003) Page Start: 709 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗