Article
Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency.
1 Jul 1997
Abstract excerpt
Several subsets of patients with hereditary spherocytosis (HS) have been defined based on the specific red blood cell membrane protein deficiencies involving spectrin, ankyrin, band 3, and protein 4.2. Mutations of the genes encoding these proteins are currently being uncovered. Regarding spectrin, only three isolated cases of beta-spectrin gene mutations were recently reported in association with HS and spectrin...
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