Article
IQCB1 mutations in patients with leber congenital amaurosis.
Investigative ophthalmology & visual science - 11 Feb 2011
Estrada-Cuzcano Alejandro, Koenekoop Robert K, Coppieters Frauke, Kohl Susanne, Lopez Irma, Collin Rob W J, De Baere Elfride B W, Roeleveld Debbie, Marek Jonah, Bernd Antje, Rohrschneider Klaus, van den Born L Ingeborgh, Meire Françoise, Maumenee Irene H, Jacobson Samuel G, Hoyng Carel B, Zrenner Eberhart, Cremers Frans P M, den Hollander Anneke I
Abstract excerpt
PURPOSE: Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for ∼70% of LCA patients. The aim of the present study was to identify new genetic causes of LCA. METHODS: Homozygosity mapping in >150 LCA patients of worldwide origin was performed with high-density SNP microarrays to identify new disease-causing genes. RESULTS: In three isolated LCA patients,...
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