Article
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Investigative ophthalmology & visual science - 1 Dec 2007
Vallespin Elena, Cantalapiedra Diego, Riveiro-Alvarez Rosa, Wilke Robert, Aguirre-Lamban Jana, Avila-Fernandez Almudena, Lopez-Martinez Miguel Angel, Gimenez Ascension, Trujillo-Tiebas Maria Jose, Ramos Carmen, Ayuso Carmen
Abstract excerpt
PURPOSE: Leber Congenital Amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. This study was a mutational analysis of eight genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, MERTK, and LRAT) in 299 unrelated Spanish families, containing 42 patients with initial diagnosis of LCA: 107 with early-onset autosomal recessive retinitis pigmentosa (ARRP; onset <10 years...
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