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

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

Pan Q1,2, Yi C3, Xu T4, Liu J4, Jing X5, Hu B1,2, Wang Y2,6,7.

Author information

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.
PMID:
26547501
DOI:
10.1111/aos.12854
[Indexed for MEDLINE]
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