Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

Pigment Cell Melanoma Res. 2008 Oct;21(5):583-7. doi: 10.1111/j.1755-148X.2008.00496.x.
No abstract available

Publication types

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

MeSH terms

  • Albinism, Oculocutaneous* / diagnosis
  • Albinism, Oculocutaneous* / genetics
  • Antigens, Neoplasm / genetics
  • Humans
  • Membrane Glycoproteins / genetics
  • Membrane Transport Proteins / genetics*
  • Molecular Sequence Data
  • Monophenol Monooxygenase / genetics
  • Mutation*
  • Oxidoreductases / genetics

Substances

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