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Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa

PURPOSE: To determine the the prevalence of pathogenic mutations in the gene encoding lecithin retinol acyltransferase (LRAT) in patients from North America with either Leber congenital amaurosis (LCA) or autosomal recessive retinitis pigmentosa (ARRP). METHODS: Exon 1, exon 2, and the coding region...

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Detalles Bibliográficos
Autores principales: Sweeney, Meredith O., McGee, Terri L., Berson, Eliot L., Dryja, Thaddeus P.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669503/
https://www.ncbi.nlm.nih.gov/pubmed/17438524