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.
Yzer, S 1 2; van den Born, L I 1; Schuil, J 3; Kroes, H Y 4; van Genderen, M M 3; Boonstra, F N 3; van den Helm, B 2; Brunner, H G 2; Koenekoop, R K 5; Cremers, F P M 2
Journal of Medical Genetics.
40(9):709-713, September 2003.
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