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Mutation in the Gene GUCA1A, Encoding Guanylate Cyclase-Activating Protein 1, Causes Cone, Cone-Rod, and Macular Dystrophy

✍ Scribed by Michel Michaelides; Susan E. Wilkie; Sharon Jenkins; Graham E. Holder; David M. Hunt; Anthony T. Moore; Andrew R. Webster


Book ID
116803522
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
199 KB
Volume
112
Category
Article
ISSN
0161-6420

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The GUCA1A gene encodes the guanylate cyclase activating protein 1 (GCAP1) of mammalian rod and cone photoreceptor cells, which is involved in the Ca2+-dependent negative feedback regulation of membrane bound guanylate cyclases in the retina. Mutations in the GUCA1A gene have been associated with di