Article
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Investigative ophthalmology & visual science - 1 Jul 2010
Littink Karin W, Pott Jan-Willem R, Collin Rob W J, Kroes Hester Y, Verheij Joke B G M, Blokland Ellen A W, de Castro Miró Marta, Hoyng Carel B, Klaver Caroline C W, Koenekoop Robert K, Rohrschneider Klaus, Cremers Frans P M, van den Born L Ingeborgh, den Hollander Anneke I
Abstract excerpt
PURPOSE. To identify the genetic defect in a family with variable retinal phenotypes. The proband had a diagnosis of Leber congenital amaurosis (LCA), whereas her two cousins had an early-onset severe retinal dystrophy (EOSRD) with useful vision. A distant family member had retinitis pigmentosa (RP). METHODS. DNA samples of the affected family members were genotyped with 250 K genome-wide SNP microarrays. Genetic...
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