Article
A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.
Molecular vision - 24 Sept 2004
McKay Gareth J, Clarke Stephen, Hughes Anne, McConnell Vivienne, Schultz Dennis W, Klein Michael L, Silvestri Giuliana, Simpson David A C
Abstract excerpt
PURPOSE: Age related macular degeneration (AMD) is a common cause of severe vision loss. Identification of genes involved in AMD will facilitate early detection and ultimately help to identify pathways for treatment for this disorder. The A16,263G mutation in the HEMICENTIN-1 gene produces a non-conservative substitution of arginine for glutamine at codon 5345 which has been implicated in familial AMD. The aim of...
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