G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP

Hum Mutat. 1997;9(3):282-5. doi: 10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphate / blood*
  • Amino Acid Sequence
  • DNA / analysis
  • Erythrocytes / enzymology*
  • Exons
  • Female
  • Hematologic Diseases / blood
  • Hematologic Diseases / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation
  • Polycythemia / enzymology
  • Polycythemia / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Pyruvate Kinase / blood
  • Pyruvate Kinase / genetics*
  • Restriction Mapping

Substances

  • Adenosine Triphosphate
  • DNA
  • Pyruvate Kinase