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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Detalhes bibliográficos

Publicado no:	J Clin Invest
Principais autores:	Hassoun, H, Vassiliadis, J N, Murray, J, Yi, S J, Hanspal, M, Ware, R E, Winter, S S, Chiou, S S, Palek, J
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1995
Assuntos:	Research Article
Acesso em linha:	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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