title: Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK.
authors.forename: Rola
authors.initials: R
authors.lastname: Ba-Abbad
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK.
authors.forename: Gavin
authors.initials: G
authors.lastname: Arno
authors.affiliation: Department of Haematology, University of Cambridge and, NHS Blood and Transplant, Cambridge, UK; NIHR BioResource-Rare Diseases, Cambridge.
authors.forename: Keren
authors.initials: K
authors.lastname: Carss
authors.affiliation: Department of Haematology, University of Cambridge and, NHS Blood and Transplant, Cambridge, UK; NIHR BioResource-Rare Diseases, Cambridge.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Stirrups
authors.affiliation: Department of Haematology, University of Cambridge and, NHS Blood and Transplant, Cambridge, UK; NIHR BioResource-Rare Diseases, Cambridge.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Penkett
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK; Ophthalmology Department, UCSF School of Medicine, Koret Vision Centre, San Francisco CA.
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK.
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
authors.affiliation: NIHR BioResource-Rare Diseases, Cambridge; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
authors.forename: F Lucy
authors.initials: FL
authors.lastname: Raymond
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Webster
authors.affiliation: UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK. Electronic address: graham.holder@moorfields.nhs.uk.
authors.forename: Graham E
authors.initials: GE
authors.lastname: Holder
mesh_terms: D000328:Adult; D020746:Calcium Channels, L-Type / Q000235:genetics*; D018389:Codon, Nonsense; D003117:Color Vision Defects / Q000235:genetics; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques; D006801:Humans; D061848:Optical Imaging; D010375:Pedigree; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D055815:Young Adult
chemical_list: C498838:CACNA2D4 protein, human; D020746:Calcium Channels, L-Type; D018389:Codon, Nonsense