Article
Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.
Blood cells, molecules & diseases - 1 Jan 1995
Baronciani L, Magalhães I Q, Mahoney D H, Westwood B, Adekile A D, Lappin T R, Beutler E
Abstract excerpt
We have examined DNA from fifteen unrelated pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia (HNSHA) for the molecular alterations responsible for the enzyme deficiency. All but 3 of the 30 putative mutations were identified. Fourteen different mutations were fou...
Topics
- Anemia, Hemolytic, Congenital Nonspherocytic
- Base Sequence
- DNA Mutational Analysis
- DNA, Satellite
- Ethnicity
- Female
- Haplotypes
- Humans
- Isoenzymes
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational