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

Neuroscience letters - 29 Apr 2013

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

Abstract excerpt

Ten mutations in the guanylate cyclase activator 1A (GUCA1A) have been previously identified and reported in patients with retinal degeneration, including patients from 12 families with cone-rod dystrophy (CORD) and in an isolated patient with retinitis pigmentosa (RP). In this study, the coding exons and adjacent regions of GUCA1A were evaluated in 130 probands with CORD from 130 unrelated Chinese families using...

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PMID: 23428504
DOI: 10.1016/j.neulet.2013.02.013

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