Article
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Investigative ophthalmology & visual science - 1 Mar 2006
Yzer Suzanne, Leroy Bart P, De Baere Elfride, de Ravel Thomy J, Zonneveld Marijke N, Voesenek Krysta, Kellner Ulrich, Ciriano Jose P Martinez, de Faber Jan-Tjeerd H N, Rohrschneider Klaus, Roepman Ronald, den Hollander Anneke I, Cruysberg Johannes R, Meire Françoise, Casteels Ingele, van Moll-Ramirez Norka G, Allikmets Rando, van den Born L Ingeborgh, Cremers Frans P M
Abstract excerpt
PURPOSE: To test the efficiency of a microarray chip as a diagnostic tool in a cohort of northwestern European patients with Leber congenital amaurosis (LCA) and to perform a genotype-phenotype analysis in patients in whom pathologic mutations were identified. METHODS: DNAs from 58 patients with LCA were analyzed using a microarray chip containing previously identified disease-associated sequence variants in six...
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