Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

J Med Genet. 2001 May;38(5):324-6. doi: 10.1136/jmg.38.5.324.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Aryl Hydrocarbon Hydroxylases*
  • Base Sequence
  • Canada / ethnology
  • Child
  • Child, Preschool
  • Cytochrome P-450 CYP1B1
  • Cytochrome P-450 Enzyme System / genetics*
  • Glaucoma / congenital*
  • Glaucoma / enzymology
  • Glaucoma / genetics*
  • Glaucoma / pathology
  • Humans
  • Indians, North American / genetics
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Phenotype

Substances

  • Cytochrome P-450 Enzyme System
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1