Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia

Hum Genet. 2009 Apr;125(3):334.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alkaline Phosphatase / deficiency*
  • Alkaline Phosphatase / genetics*
  • Amino Acid Substitution
  • Codon / genetics
  • Female
  • Humans
  • Hypophosphatasia / embryology
  • Hypophosphatasia / enzymology*
  • Hypophosphatasia / genetics*
  • Infant, Newborn
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pregnancy

Substances

  • Codon
  • Alkaline Phosphatase

Associated data

  • GENBANK/HM080061