Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
Nakamura
Yosuke
Y
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan.
Hayashi
Takaaki
T
Kozaki
Kenichi
K
Kubo
Akiko
A
Omoto
Satoshi
S
Watanabe
Akira
A
Toda
Kazushige
K
Takeuchi
Tomokazu
T
Gekka
Tamaki
T
Kitahara
Kenji
K
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
D018389:Codon, Nonsense; D018388:Codon, Terminator; C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors; D005973:Glutamine