Article
Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis.
Haematologica - 1 Jan 2000
Iolascon A, Miraglia del Giudice E, Camaschella C
Abstract excerpt
Hereditary spherocytosis and elliptocytosis are common genetic defects of the red blood cell membrane skeleton. In recent years rapid advances have been made in the knowledge of the protein structure and assembly of the cytoskeleton. Thanks to the wide use of protein analysis methods several alterations have been discovered in functionally important domains of the different cytoskeletal proteins in these...
Topics
- Adult
- Animals
- Blood Proteins
- Cytoskeletal Proteins
- Elliptocytosis, Hereditary
- Erythrocyte Membrane
- Erythrocytes, Abnormal
- Genes
- Genes, Dominant
- Genes, Recessive
- Humans
