SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Albinism, Oculocutaneous / classification*
  • Albinism, Oculocutaneous / genetics*
  • Antiporters / genetics*
  • Child, Preschool
  • Female
  • Genotype
  • Humans
  • Infant
  • Male
  • Mutation
  • Phenotype
  • Young Adult

Substances

  • Antiporters
  • SLC24A5 protein, human