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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Hoofdauteurs: Wang, Nan-Kai, Fine, Howard, Chang, Stanley, Chou, Chai Lin, Cella, Wener, Tosi, Joaquin, Lin, Chyuan-Sheng, Nagasaki, Takayuki, Tsang, Stephen H.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2009
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Online toegang: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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