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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...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669503/ https://www.ncbi.nlm.nih.gov/pubmed/17438524 |