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...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Lawler, J, Liu, S C, Palek, J, Prchal, J
Format: Artigo
Langue:Inglês
Publié: 1984
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC437080/
https://ncbi.nlm.nih.gov/pubmed/6725555
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