Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.
We describe a spectrin variant characterized by a truncated beta chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderate hemolytic anemia with striking spherocytosis and mild spiculation of the red cells. We describe the biochemical characteristics of this t...
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| Veröffentlicht in: | J Clin Invest |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Clinical Investigation
1995
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC185967/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8675627/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118327 |
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