A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy

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Mahajan, D. ; Votruba, Marcela (2017)

NR2E3 is a gene that encodes for photoreceptor cell specific nuclear receptor, which is involved in cone proliferation. The splice site mutation 119-2A>C in NR2E3 (15q23) has been previously reported to underlie recessive enhanced cone S sensitivity syndrome, clumped pi... View more
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