Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients

Hum Mutat. 1998:Suppl 1:S263-7. doi: 10.1002/humu.1380110184.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alkaline Phosphatase / genetics*
  • Amino Acid Substitution
  • Child
  • Child, Preschool
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Hypophosphatasia / enzymology
  • Hypophosphatasia / genetics*
  • Hypophosphatasia / pathology
  • Japan
  • Male
  • Mutation, Missense
  • Pedigree
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA
  • Alkaline Phosphatase