Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation

Jpn J Ophthalmol. 2010 Nov;54(6):624-6.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Asian People
  • Exons / genetics
  • Eye Proteins / genetics*
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Infant
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation*
  • Polymerase Chain Reaction

Substances

  • Eye Proteins
  • GPR143 protein, human
  • Membrane Glycoproteins