Biochemical and molecular characterization of variant pyruvate kinase enzymes and genes from three patients with red blood cell pyruvate kinase deficiency.

doi:10.1159/000204808

Back to search

Article

Biochemical and molecular characterization of variant pyruvate kinase enzymes and genes from three patients with red blood cell pyruvate kinase deficiency.

Acta haematologica - 1 Jan 1991

Johnson M L, Jones D P, Freeman J M, Wang W

Abstract excerpt

Pyruvate kinase (PK) from red blood cells (RBC) of three patients with nonspherocytic hemolytic anemia due to PK deficiency was characterized according to internationally standardized methods. The variant enzymes, which were designated PK 'Memphis', PK 'Bartlett', and PK 'Pontotoc', had 11, 60, a...

Topics

Enzyme Stability
Erythrocytes
Genetic Variation
Hot Temperature
Humans
Mutation
Nucleic Acid Hybridization
Polymorphism, Restriction Fragment Length
Pyruvate Kinase

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.