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

Acta Ophthalmol. 2016 Jun;94(4):417-8. doi: 10.1111/aos.12854. Epub 2015 Nov 7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Albinism, Ocular / diagnosis
  • Albinism, Ocular / ethnology
  • Albinism, Ocular / genetics*
  • Asian Continental Ancestry Group / genetics
  • China / epidemiology
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / ethnology
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Infant
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction

Substances

  • Eye Proteins
  • GPR143 protein, human
  • Membrane Glycoproteins

Supplementary concepts

  • Ocular Albinism type 1