Sharon, Dror

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