title: A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.
authors.affiliation: Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.|Center for Genome Research, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.
authors.forename: Qihao
authors.initials: Q
authors.lastname: Pan
authors.affiliation: Ophthalmology Center, Eye Hospital, Sun Yat-Sen University, Guangzhou, China.
authors.forename: Changxian
authors.initials: C
authors.lastname: Yi
authors.affiliation: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Science, Guangzhou, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Xu
authors.affiliation: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Science, Guangzhou, China.
authors.forename: Jinsong
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Prenatal Diagnosis Center, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Xiangyi
authors.initials: X
authors.lastname: Jing
authors.affiliation: Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.|Center for Genome Research, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Hu
authors.affiliation: Center for Genome Research, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.|Beijing Genomics Institute in Shenzhen, Shenzhen, China.|Xinhua College, Sun Yat-Sen University, Guangzhou, China.
authors.forename: Yiming
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins