Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. [electronic resource]
Producer: 20030923Description: 1316-23 p. digitalISSN:- 0003-9950
- 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
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
There are no comments on this title.
Log in to your account to post a comment.