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Title
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.
Authors
S, Yzer; I, van den Born L; J, Schuil; Y, Kroes H; M, van Genderen M; N, Boonstra F; B, van den Helm; G, Brunner H; K, Koenekoop R; M, Cremers F P
Publication
Journal of Medical Genetics (JMG), 2003, Vol 40, Issue 9, p709