title: 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.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: B
authors.initials: B
authors.lastname: Westwood
authors.forename: R
authors.initials: R
authors.lastname: van Zwieten
authors.forename: D
authors.initials: D
authors.lastname: Roos
mesh_terms: D000255:Adenosine Triphosphate / Q000097:blood*; D000595:Amino Acid Sequence; D004247:DNA / Q000032:analysis; D004912:Erythrocytes / Q000201:enzymology*; D005091:Exons; D005260:Female; D006402:Hematologic Diseases / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011086:Polycythemia / Q000201:enzymology / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011770:Pyruvate Kinase / Q000097:blood / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D000255:Adenosine Triphosphate; D004247:DNA; D011770:Pyruvate Kinase