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Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy

✍ Scribed by Huang, Li; Li, Shiqiang; Xiao, Xueshan; Jia, Xiaoyun; Sun, Wenmin; Gao, Yang; Li, Lin; Wang, Panfeng; Guo, Xiangming; Zhang, Qingjiong


Book ID
122666340
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
807 KB
Volume
541
Category
Article
ISSN
0304-3940

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Mutations in the GUCA1A gene involved in
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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