Article
Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.
The Journal of clinical investigation - 1 Apr 1995
Baronciani L, Beutler E
Abstract excerpt
DNA analysis was performed on 30 unrelated patients with hereditary nonspherocytic hemolytic anemia (HNSHA) who had been found to be pyruvate kinase (PK) deficient by enzyme assay. 19 different mutations were identified among 58 of the 60 alleles at risk. 13 of these were missense mutations that...
Topics
- Anemia, Hemolytic, Congenital Nonspherocytic
- Base Sequence
- Black People
- Conserved Sequence
- Crossing Over, Genetic
- DNA, Satellite
- Exons
- Humans
- Introns
- Linkage Disequilibrium
- Liver
- Models, Genetic
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- Point Mutation
- Polymorphism, Genetic
- Population