A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene

Br J Dermatol. 2005 Jan;152(1):174-5. doi: 10.1111/j.1365-2133.2005.06403.x.
No abstract available

Publication types

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

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Antigens, Neoplasm
  • Asian People / genetics*
  • Child
  • Female
  • Humans
  • Korea
  • Male
  • Membrane Proteins / genetics*
  • Membrane Transport Proteins
  • Mutation*
  • Polymorphism, Single-Stranded Conformational

Substances

  • Antigens, Neoplasm
  • Membrane Proteins
  • Membrane Transport Proteins
  • SLC45A2 protein, human