title: Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
authors.affiliation: Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hayashi
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kozaki
authors.forename: Akiko
authors.initials: A
authors.lastname: Kubo
authors.forename: Satoshi
authors.initials: S
authors.lastname: Omoto
authors.forename: Akira
authors.initials: A
authors.lastname: Watanabe
authors.forename: Kazushige
authors.initials: K
authors.lastname: Toda
authors.forename: Tomokazu
authors.initials: T
authors.lastname: Takeuchi
authors.forename: Tamaki
authors.initials: T
authors.lastname: Gekka
authors.forename: Kenji
authors.initials: K
authors.lastname: Kitahara
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense; D018388:Codon, Terminator; D003117:Color Vision Defects / Q000209:etiology; D004596:Electroretinography; D005654:Fundus Oculi; D005973:Glutamine; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000209:etiology; D057093:Orphan Nuclear Receptors; D010375:Pedigree; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D017949:Retinal Cone Photoreceptor Cells; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014792:Visual Acuity
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors; D005973:Glutamine