Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII

Hum Mutat. 1996;8(3):273-5. doi: 10.1002/(SICI)1098-1004(1996)8:3<273::AID-HUMU13>3.0.CO;2-#.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Cysteine
  • DNA / blood
  • Exons
  • Glycogen Storage Disease Type VII / enzymology*
  • Glycogen Storage Disease Type VII / genetics*
  • Humans
  • Isoenzymes / genetics*
  • Japan
  • Leukocytes
  • Male
  • Phosphofructokinase-1 / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Reticulocytes
  • Tryptophan

Substances

  • Isoenzymes
  • Tryptophan
  • DNA
  • Phosphofructokinase-1
  • Cysteine