G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism

Hum Mol Genet. 1993 Jan;2(1):81-2. doi: 10.1093/hmg/2.1.81.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • DNA / genetics
  • DNA / isolation & purification
  • Erythrocytes / enzymology
  • Exons
  • Favism / blood
  • Favism / enzymology
  • Favism / genetics*
  • Female
  • Glucosephosphate Dehydrogenase / blood
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / blood
  • Glucosephosphate Dehydrogenase Deficiency / enzymology
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Kinetics
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • DNA
  • Glucosephosphate Dehydrogenase