Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

Hum Mutat. 1997;10(2):171-4. doi: 10.1002/(SICI)1098-1004(1997)10:2<171::AID-HUMU11>3.0.CO;2-X.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Albinism, Oculocutaneous / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Monophenol Monooxygenase / genetics*
  • Mutation*

Substances

  • Monophenol Monooxygenase