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Cellular Origin of Fundus Autofluorescence in Patients and Mice with Defective NR2E3 Gene
AIM: To characterize new clinical features in a family with enhanced S-cone syndrome (ESCS) and investigate the pathogenesis of these clinical features in the homozygous Nr2e3(rd7rd7) (rd7) mutant mice. METHODS: Four patients from an affected family were included for genotypic and phenotypic study....
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Auteurs principaux: | , , , , , , , , |
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Format: | Artigo |
Langue: | Inglês |
Publié: |
2009
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Sujets: | |
Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2742679/ https://ncbi.nlm.nih.gov/pubmed/19429590 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2008.153577 |
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