Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia

Hum Mol Genet. 1994 Sep;3(9):1683-4. doi: 10.1093/hmg/3.9.1683.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alkaline Phosphatase / deficiency
  • Alkaline Phosphatase / genetics*
  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • DNA Primers / genetics
  • Exons
  • Female
  • Frameshift Mutation
  • Humans
  • Hypophosphatasia / enzymology*
  • Hypophosphatasia / genetics*
  • Infant
  • Japan
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction

Substances

  • DNA Primers
  • Alkaline Phosphatase