Literature DB >> 26547501

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

Qihao Pan1,2, Changxian Yi3, Tingting Xu4, Jinsong Liu4, Xiangyi Jing5, Bin Hu1,2, Yiming Wang2,6,7.   

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Year:  2015        PMID： 26547501     DOI： 10.1111/aos.12854

Source DB:  PubMed          Journal:  Acta Ophthalmol        ISSN： 1755-375X            Impact factor:   3.761


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  5 in total

1.  Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

Authors:  Xuan Zou; Hui Li; Lizhu Yang; Zixi Sun; Zhisheng Yuan; Huajin Li; Ruifang Sui
Journal:  Sci Rep       Date:  2017-02-17       Impact factor: 4.379

2.  A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.

Authors:  Xuhui Gao; Tiecheng Liu; Xuan Cheng; Aiai Dai; Wei Liu; Runpu Li; Maonian Zhang
Journal:  Mol Med Rep       Date:  2019-11-12       Impact factor: 2.952

3.  Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.

Authors:  Xiao-Fang Wang; Hui Chen; Peng-Juan Huang; Zhuo-Kun Feng; Zi-Qi Hua; Xiang Feng; Fang Han; Xiao-Tao Xu; Ren-Juan Shen; Yang Li; Zi-Bing Jin; Huan-Yun Yu
Journal:  Front Cell Dev Biol       Date:  2021-02-19

Review 4.  Ocular findings and genomics of X-linked recessive disorders: A review.

Authors:  Asima Hassan; Yaser R Mir; Raja A H Kuchay
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

5.  Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

Authors:  Winston Lee; Kaspar Schuerch; Yajing Xie; Jana Zernant; Stephen H Tsang; Janet R Sparrow; Rando Allikmets
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-06-01       Impact factor: 4.925
  5 in total

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