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.
Beutler
E
E
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA.
Westwood
B
B
van Zwieten
R
R
Roos
D
D
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
D000255:Adenosine Triphosphate; D004247:DNA; D011770:Pyruvate Kinase