Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance

Hum Mol Genet. 1994 Jan;3(1):203-4. doi: 10.1093/hmg/3.1.203.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • DNA Primers
  • Exons
  • Female
  • Fructose Intolerance / enzymology
  • Fructose Intolerance / genetics*
  • Fructose-Bisphosphate Aldolase / genetics*
  • Humans
  • Isoenzymes / genetics
  • Leucine*
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Proline*
  • Restriction Mapping

Substances

  • DNA Primers
  • Isoenzymes
  • Proline
  • Fructose-Bisphosphate Aldolase
  • Leucine