title: A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype.
authors.affiliation: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Katagiri
authors.affiliation: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hayashi
authors.affiliation: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors.forename: Tamaki
authors.initials: T
authors.lastname: Gekka
authors.affiliation: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsuneoka
mesh_terms: D015794:Choroideremia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000072470:Cytochrome P450 Family 4 / Q000235:genetics*; D004596:Electroretinography; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012160:Retina / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4