A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

Littink, Karin W; van Genderen, Maria M; van Schooneveld, Mary J; Visser, Linda; Riemslag, Frans C C; Keunen, Jan E E; Bakker, Bjorn; Zonneveld, Marijke N; den Hollander, Anneke I; Cremers, Frans P M; van den Born, L Ingeborgh

Littink, Karin W; van Genderen, Maria M; van Schooneveld, Mary J; Visser, Linda; Riemslag, Frans C C; Keunen, Jan E E; Bakker, Bjorn; Zonneveld, Marijke N; den Hollander, Anneke I; Cremers, Frans P M; van den Born, L Ingeborgh.

Affiliation

Littink KW; The Rotterdam Eye Hospital, Rotterdam, The Netherlands. k.littink@oogziekenhuis.nl

Ophthalmology ; 119(9): 1899-906, 2012 Sep.

Article in En | MEDLINE | ID: mdl-22559933

Subject(s)

Acyltransferases/genetics; Frameshift Mutation; Retinal Diseases/genetics; Adolescent; Adult; Aged; Alcohol Oxidoreductases/genetics; Carrier Proteins/genetics; Child; DNA Mutational Analysis; Electroretinography; Fluorescein Angiography; Homozygote; Humans; Middle Aged; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Retina/physiopathology; Retinal Diseases/diagnosis; Retinal Diseases/physiopathology; Tomography, Optical Coherence; Visual Acuity/physiology; Visual Field Tests; Visual Fields/physiology; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Acyltransferases / Frameshift Mutation Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Humans / Middle aged Language: En Journal: Ophthalmology Year: 2012 Document type: Article Affiliation country: Netherlands

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