Article
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Investigative ophthalmology & visual science - 1 Dec 2007
Henderson Robert H, Waseem Naushin, Searle Rowan, van der Spuy Jacqueline, Russell-Eggitt Isabelle, Bhattacharya Shomi S, Thompson Dorothy A, Holder Graham E, Cheetham Michael E, Webster Andrew R, Moore Anthony T
Abstract excerpt
PURPOSE: Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are genetically heterogeneous, with 11 genes currently implicated. The LCA chip may be used to interrogate many variants in one hybridization reaction. The purpose of this study was to assess the utility of this technology. METHODS: One hundred fifty-three patients with LCA and EOSRD were screened using an array (Asper...
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