Article
Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.
Blood - 1 Mar 1992
Kanno H, Fujii H, Hirono A, Omine M, Miwa S
Abstract excerpt
We cloned and sequenced the cDNAs for R-type pyruvate kinase (R-PK) from three homozygous PK patients. A point mutation (1151ACG to ATG) identified in the R-PK cDNA of PK Nagasaki was identical with that previously identified in an unrelated family, PK Tokyo. The mutation has also been identified in the PK L gene of a Lebanese family, PK Beirut, by Neubauer et al (Blood 77:1871, 1991). These results suggest...
Topics
- Anemia, Hemolytic, Congenital
- Base Sequence
- Cloning, Molecular
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Humans
- Japan
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction