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A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association.
Hereditary elliptocytosis (HE) is a clinically and biochemically heterogenous group of diseases characterized by elliptically shaped erythrocytes and an autosomal dominant mode of inheritance. Whereas the self-association of spectrin heterodimers to tetramers is defective in a subpopulation of HE pa...
Enregistré dans:
| Publié dans: | J Clin Invest |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society for Clinical Investigation
1984
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC437080/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6725555/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI111376 |
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