Article
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
Human molecular genetics - 1 Jan 2017
Vocke Farina, Weisschuh Nicole, Marino Valerio, Malfatti Silvia, Jacobson Samuel G, Reiff Charlotte M, Dell'Orco Daniele, Koch Karl-Wilhelm
Abstract excerpt
Macular dystrophy leads to progressive loss of central vision and shows symptoms similar to age-related macular degeneration. Genetic screening of patients diagnosed with macular dystrophy disclosed a novel mutation in the GUCA1A gene, namely a c.526C > T substitution leading to the amino acid substitution p.L176F in the guanylate cyclase-activating protein 1 (GCAP1). The same variant was found in three families...
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