Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screen...

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Veröffentlicht in:	Nature genetics 2001-06, Vol.28 (2), p.123-124
Hauptverfasser:	Thompson, Debra A, Li, Yun, McHenry, Christina L, Carlson, Thomas J, Ding, Xiaoling, Sieving, Paul A, Apfelstedt-Sylla, Eckart, Gal, Andreas
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyltransferases - genetics Acyltransferases - metabolism Age of Onset Agriculture Animal Genetics and Genomics Animals Artificial chromosomes Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Cell Membrane - metabolism Classical genetics, quantitative genetics, hybrids COS Cells Dystrophy Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes, Recessive Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes Health aspects Human Human Genetics Humans lecithin retinol acyltransferase LRAT gene Male Medical sciences Metabolism Microsatellite Repeats Mutation Ophthalmology Patients Physiological aspects Point Mutation Polymorphism, Single-Stranded Conformational Publishing Retinal degeneration Retinal Degeneration - genetics retinal dystrophy Retinopathies Risk factors Transferases Vitamin A
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