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J Med Genet. 2003 Sep;40(9):709-13.

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.

PMID:
12960219
[PubMed - indexed for MEDLINE]
PMCID:
PMC1735582
Free PMC Article
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