An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.
Chavala
S H
SH
Sari
A
A
Lewis
H
H
Pauer
G J T
GJ
Simpson
E
E
Hagstrom
S A
SA
Traboulsi
E I
EI
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*
C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors