Article
Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
Blood - 1 Dec 1996
Jarolim P, Murray J L, Rubin H L, Taylor W M, Prchal J T, Ballas S K, Snyder L M, Chrobak L, Melrose W D, Brabec V, Palek J
Abstract excerpt
Hereditary spherocytosis (HS) is a common hemolytic anemia of variable clinical expression. Pathogenesis of HS has been associated with defects of several red cell membrane proteins including erythroid band 3. We have studied erythrocyte membrane proteins in 166 families with autosomal dominant H...
Topics
- Alleles
- Anion Exchange Protein 1, Erythrocyte
- Ankyrins
- DNA Mutational Analysis
- Erythrocyte Membrane
- Frameshift Mutation
- Gene Expression
- Humans
- Mutation
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Protein Conformation