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.
SourceJournal of Medical Genetics, 40, 9, (2003), pp. 709-13
Article / Letter to editor
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Journal of Medical Genetics
SubjectUMCN 3.3: Neurosensory disorders; UMCN 5.1: Genetic defects of metabolism
This item appears in the following Collection(s)
- Academic publications 
- Faculty of Medical Sciences 
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