G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family

J Inherit Metab Dis. 2002 Nov;25(7):601-2. doi: 10.1023/a:1022055710295.
No abstract available

MeSH terms

  • Alkaline Phosphatase / genetics*
  • Child, Preschool
  • Female
  • Germany
  • Haplotypes
  • Heterozygote
  • Humans
  • Hypophosphatasia / enzymology*
  • Hypophosphatasia / genetics*
  • Male
  • Point Mutation*
  • Polymorphism, Genetic

Substances

  • Alkaline Phosphatase