Article
SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.
Journal of medical genetics - 1 Aug 2014
Guo Hui, Jin Xuemin, Zhu Tengfei, Wang Tianyun, Tong Ping, Tian Lei, Peng Yu, Sun Liangdan, Wan Anran, Chen Jingjing, Liu Yanling, Li Ying, Tian Qi, Xia Lu, Zhang Lusi, Pan Yongcheng, Lu Lina, Liu Qiong, Shen Lu, Li Yunping, Xiong Wei, Li Jiada, Tang Beisha, Feng Yong, Zhang Xuejun, Zhang Zhuohua, Pan Qian, Hu Zhengmao, Xia Kun
Abstract excerpt
BACKGROUND: High myopia, with the characteristic feature of refractive error, is one of the leading causes of blindness worldwide. It has a high heritability, but only a few causative genes have been identified and the pathogenesis is still unclear. METHODS: We used whole genome linkage and exome sequencing to identify the causative mutation in a non-syndromic high myopia family. Direct Sanger sequencing was used...
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