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

doi:10.1136/jmg.40.9.709

J Med Genet. 2003 September; 40(9): 709–713.

PMCID: PMC1735582

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

S Yzer, L I van den Born, J Schuil, H Kroes, M M van Genderen, F Boonstra, B van den Helm, H Brunner, R Koenekoop, and F Cremers

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