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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Bibliographic Details
Main Authors: Hassoun, H, Vassiliadis, J N, Murray, J, Yi, S J, Hanspal, M, Ware, R E, Winter, S S, Chiou, S S, Palek, J
Format: Artigo
Language:Inglês
Published: 1995
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC185967/
https://ncbi.nlm.nih.gov/pubmed/8675627
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