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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 ophthalmologica - 1 Jun 2016

Pan Qihao, Yi Changxian, Xu Tingting, Liu Jinsong, Jing Xiangyi, Hu Bin, Wang Yiming

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PMID: 26547501
DOI: 10.1111/aos.12854

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A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.PMID 26547501Read ↗

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