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Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.

AuthorsY Ohtake, R Kubota, T Tanino, H Miyata, Y Mashima
JournalOphthalmic genetics (Ophthalmic Genet) Vol. 21 Issue 3 Pg. 191-3 (Sep 2000) ISSN: 1381-6810 [Print] England
PMID11184479 (Publication Type: Journal Article)
Chemical References
  • DNA Primers
  • Cytochrome P-450 Enzyme System
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1
Topics
  • Adolescent
  • Adult
  • Aryl Hydrocarbon Hydroxylases
  • Base Sequence
  • Child
  • Child, Preschool
  • Cytochrome P-450 CYP1B1
  • Cytochrome P-450 Enzyme System (genetics)
  • DNA Mutational Analysis
  • DNA Primers (chemistry)
  • Female
  • Glaucoma (congenital, ethnology, genetics)
  • Humans
  • Infant
  • Male
  • Mutation (genetics)
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA

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