title: A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK.
authors.forename: Jessica C
authors.initials: JC
authors.lastname: Gardner
authors.forename: Tom R
authors.initials: TR
authors.lastname: Webb
authors.forename: Naheed
authors.initials: N
authors.lastname: Kanuga
authors.forename: Anthony G
authors.initials: AG
authors.lastname: Robson
authors.forename: Graham E
authors.initials: GE
authors.lastname: Holder
authors.forename: Andrew
authors.initials: A
authors.lastname: Stockman
authors.forename: Caterina
authors.initials: C
authors.lastname: Ripamonti
authors.forename: Neil D
authors.initials: ND
authors.lastname: Ebenezer
authors.forename: Olufunmilola
authors.initials: O
authors.lastname: Ogun
authors.forename: Sophie
authors.initials: S
authors.lastname: Devery
authors.forename: Genevieve A
authors.initials: GA
authors.lastname: Wright
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.forename: Michael E
authors.initials: ME
authors.lastname: Cheetham
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D041321:Chromosomes, Human, X / Q000235:genetics; D003117:Color Vision Defects / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology; D058499:Retinal Dystrophies / Q000235:genetics* / Q000473:pathology; D017299:Rod Opsins / Q000235:genetics*; D055815:Young Adult
chemical_list: D017299:Rod Opsins; C095855:long-wavelength opsin; C095854:middle-wavelength opsin