Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. [electronic resource]
- Archives of ophthalmology (Chicago, Ill. : 1960) Sep 2003
- 1316-23 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0003-9950
10.1001/archopht.121.9.1316 doi
Adolescent Adult Child Dark Adaptation Electroretinography Eye Diseases, Hereditary--genetics Female Frameshift Mutation Humans Hyperopia--genetics Male Middle Aged Mutation, Missense Night Blindness--genetics Orphan Nuclear Receptors Pedigree Polymorphism, Single-Stranded Conformational Receptors, Cytoplasmic and Nuclear--genetics Retinal Degeneration--genetics Sequence Analysis, DNA Syndrome Transcription Factors--genetics Visual Acuity Visual Fields