title: Novel mutations in enhanced S-cone syndrome.
authors: Department of Ophthalmology, Kinki University, Faculty of Medicine, Osaka, Japan.
authors: Kazuki
authors: K
authors: Kuniyoshi
authors: Takaaki
authors: T
authors: Hayashi
authors: Hiroyuki
authors: H
authors: Sakuramoto
authors: Akira
authors: A
authors: Nakao
authors: Takashi
authors: T
authors: Sato
authors: Tomohiro
authors: T
authors: Utsumi
authors: Hiroshi
authors: H
authors: Tsuneoka
authors: Yoshikazu
authors: Y
authors: Shimomura
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D057093:Orphan Nuclear Receptors / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics*; D017299:Rod Opsins / Q000235:genetics*; D041623:Tomography, Optical Coherence
chemical_list: C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D017299:Rod Opsins; C095853:short-wavelength opsin