Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

J Med Genet. 2003 Aug;40(8):605-9. doi: 10.1136/jmg.40.8.605.
No abstract available

Publication types

  • Comparative Study
  • Multicenter Study

MeSH terms

  • Adult
  • Alkaline Phosphatase / blood
  • Alkaline Phosphatase / deficiency
  • Alkaline Phosphatase / genetics*
  • Animals
  • COS Cells
  • Cell Line
  • Child
  • Child, Preschool
  • Chlorocebus aethiops
  • Dental Caries / blood
  • Dental Caries / enzymology
  • Dental Caries / genetics*
  • Female
  • Genetic Carrier Screening*
  • Humans
  • Hypophosphatasia / blood
  • Hypophosphatasia / enzymology
  • Hypophosphatasia / genetics*
  • Male
  • Models, Molecular
  • Mutagenesis, Site-Directed / genetics
  • Mutation*
  • Mutation, Missense / genetics
  • Organ Specificity / genetics
  • Pedigree
  • Protein Structure, Quaternary / genetics
  • Tooth Diseases / blood
  • Tooth Diseases / enzymology
  • Tooth Diseases / genetics*

Substances

  • Alkaline Phosphatase