Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations

J Dermatol Sci. 2014 May;74(2):173-4. doi: 10.1016/j.jdermsci.2013.12.011. Epub 2014 Jan 10.
No abstract available

Keywords: Gene diagnosis; Melanin; Pigment disorder.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Albinism, Oculocutaneous / genetics*
  • Antigens, Neoplasm / genetics
  • Asian People / genetics
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Japan
  • Male
  • Membrane Glycoproteins / genetics
  • Membrane Proteins / genetics
  • Membrane Transport Proteins / genetics
  • Middle Aged
  • Monophenol Monooxygenase / genetics
  • Mutation, Missense
  • Oxidoreductases / genetics

Substances

  • Antigens, Neoplasm
  • HPS1 protein, human
  • Membrane Glycoproteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • OCA2 protein, human
  • SLC45A2 protein, human
  • Oxidoreductases
  • TYRP1 protein, human
  • Monophenol Monooxygenase