title: An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.
authors: S H
authors: SH
authors: Chavala
authors: A
authors: A
authors: Sari
authors: H
authors: H
authors: Lewis
authors: G J T
authors: GJ
authors: Pauer
authors: E
authors: E
authors: Simpson
authors: S A
authors: SA
authors: Hagstrom
authors: E I
authors: EI
authors: Traboulsi
mesh_terms: D015785:Eye Diseases, Hereditary / Q000235:genetics*; D006801:Humans; D057093:Orphan Nuclear Receptors; D017354:Point Mutation; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors