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Journal of Medical Genetics logoLink to Journal of Medical Genetics
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. 2003 Sep;40(9):709–713. doi: 10.1136/jmg.40.9.709

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, F Cremers
PMCID: PMC1735582  PMID: 12960219

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