A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy
- Publisher: Wiley-Blackwell
mesheuropmc: eye diseases | genetic structures | sense organs
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...
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