Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

Pigment Cell Melanoma Res. 2016 Jan;29(1):104-6. doi: 10.1111/pcmr.12425. Epub 2015 Nov 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Albinism, Oculocutaneous / genetics*
  • Antiporters / genetics*
  • Conserved Sequence
  • Female
  • French Guiana
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Young Adult

Substances

  • Antiporters
  • SLC24A5 protein, human