Synergistic interaction of the OCA2 and OCA3 genes in a family

Am J Med Genet A. 2008 Sep 15;146A(18):2427-30. doi: 10.1002/ajmg.a.32453.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Humans
  • Infant
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins / genetics*
  • Oxidoreductases / genetics*
  • RNA Splice Sites / genetics

Substances

  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • OCA2 protein, human
  • RNA Splice Sites
  • Oxidoreductases
  • TYRP1 protein, human