A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient

Acta Ophthalmol. 2016 Jun;94(4):417-8. doi: 10.1111/aos.12854. Epub 2015 Nov 7.

Qihao Pan^{1

2}, Changxian Yi³, Tingting Xu⁴, Jinsong Liu⁴, Xiangyi Jing⁵, Bin Hu^{1

2}, Yiming Wang^{2

6

7}

¹ Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.
² Center for Genome Research, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.
³ Ophthalmology Center, Eye Hospital, Sun Yat-Sen University, Guangzhou, China.
⁴ Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Science, Guangzhou, China.
⁵ Department of Prenatal Diagnosis Center, Guangzhou Women and Children's Medical Center, Guangzhou, China.
⁶ Beijing Genomics Institute in Shenzhen, Shenzhen, China.
⁷ Xinhua College, Sun Yat-Sen University, Guangzhou, China.

No abstract available

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