Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (CD) and complete and incomplete achromatopsia (ACHM). The underlying disease mechanisms of autosomal recessive (ar)CD are largely unknown. Our aim was to identify causative genes for these diso...

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Main Authors: Thiadens, Alberta A.H.J (Author), den Hollander, Anneke I. (Author), Roosing, Susanne (Author), Nabuurs, Sander B. (Author), Zekveld-Vroon, Renate C. (Author), Collin, Rob W.J (Author), De Baere, Elfide (Author), Koenekoop, Robert K. (Author), van Schooneveld, Mary J. (Author), Strom, Tim M. (Author), Van Lith-Verhoeven, Janneke J.C (Author), Lotery, Andrew J. (Author), van Moll-Ramirez, Norka (Author), Leroy, Bart.P (Author), van Den Born, Ingeborgh.L (Author), Hoyng, Carel. B (Author), Cremers, Frans P.M (Author), Klaver, Caroline C.W (Author)
Format: Article
Language:English
Published: 2009-08-14.
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