Article
Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.
Proceedings of the National Academy of Sciences of the United States of America - 1 May 1993
Baronciani L, Beutler E
Abstract excerpt
The intron sequences of the human L-type pyruvate kinase gene (PKLR) were determined by using primers selected from the known cDNA sequence. Oligonucleotide primers for these determined intron sequences were used to sequence the exons. When this technique was applied to the DNA of 10 unrelated pa...
Topics
- Amino Acid Sequence
- Anemia, Hemolytic
- Base Sequence
- DNA
- Exons
- Homozygote
- Humans
- Introns
- Isoenzymes
- Kinetics
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- Pyruvate Kinase