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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

Author

Yzer, S, van den Born, LI, Schuil, J, Kroes, HY, van Genderen, MM, Boonstra, FN, van den Helm, B, Brunner, HG, Koenekoop, RK, and Cremers, FPM

Subjects
Gene mutations -- Analysis -- Research -- Genetic aspects, Retinal degeneration -- Genetic aspects -- Research, Medical genetics -- Research -- Analysis, Health, Analysis, Research, Genetic aspects
Abstract

Autosomal recessive retinal dystrophies cause visual impairment in approximately 1 in 4000 individuals worldwide. (1) The non-syndromic forms are highly heterogeneous and can be classified into clinical subgroups, the most [...]

Published
2003

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