Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism

Clin Genet. 2005 Aug;68(2):182-4. doi: 10.1111/j.1399-0004.2005.00460.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Monophenol Monooxygenase / genetics*
  • Oxidoreductases / genetics*
  • Pakistan
  • Pedigree
  • Phenotype

Substances

  • Membrane Glycoproteins
  • Oxidoreductases
  • TYRP1 protein, human
  • Monophenol Monooxygenase