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A novel mutation, c.494C>A (p.Ala165Asp), in the GPR 143 gene causes a mild phenotype in a Chinese X‐linked ocular albinism patient
Author(s) -
Pan Qihao,
Yi Changxian,
Xu Tingting,
Liu Jinsong,
Jing Xiangyi,
Hu Bin,
Wang Yiming
Publication year - 2016
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.12854
Subject(s) - hypopigmentation , albinism , fundus (uterus) , nystagmus , hypoplasia , photophobia , retinal pigment epithelium , missense mutation , medicine , nonsense mutation , ophthalmology , genetics , retinal , biology , anatomy , mutation , gene , audiology
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