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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.

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机构: [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 ofBiomedicine and Health, ChineseAcademy of Science, Guangzhou, China [5]Department of Prenatal DiagnosisCenter, Guangzhou Women andChildren’s Medical Center, Guangzhou,China [6]Beijing Genomics Institute inShenzhen, Shenzhen, China [7]Xinhua College, Sun Yat-SenUniversity, Guangzhou, China
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出版当年[2015]版:
大类 | 3 区 医学
小类 | 2 区 眼科学
最新[2025]版:
大类 | 3 区 医学
小类 | 2 区 眼科学
第一作者:
第一作者机构: [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
通讯作者:
通讯机构: [2]Center for Genome Research,Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China [6]Beijing Genomics Institute inShenzhen, Shenzhen, China [7]Xinhua College, Sun Yat-SenUniversity, Guangzhou, China [*1]Xinhua College Sun Yat-Sen University 74 Zhongshan Road II Guangzhou 510089 China
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