Two novel mutations detected in Japanese patients with oculocutaneous albinism

J Dermatol Sci. 2006 Nov;44(2):116-8. doi: 10.1016/j.jdermsci.2006.07.006. Epub 2006 Sep 27.
No abstract available

Publication types

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

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Asian People / genetics
  • DNA / genetics
  • Female
  • Humans
  • Infant
  • Japan
  • Male
  • Membrane Transport Proteins / genetics*
  • Monophenol Monooxygenase / genetics*
  • Mutation / genetics*

Substances

  • Membrane Transport Proteins
  • OCA2 protein, human
  • DNA
  • Monophenol Monooxygenase

Associated data

  • OMIM/203100
  • OMIM/203200