Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

Míreanna Comhchosúla

• Abnormal oxidant sensitivity and beta-chain structure of spectrin in hereditary spherocytosis associated with defective spectrin-protein 4.1 binding.
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  Foilsithe: (1987)
• β-spectrin(Bari): a truncated β-chain responsible for dominant hereditary spherocytosis
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  Foilsithe: (2009)
• Spectrin beta-chain variant associated with hereditary elliptocytosis.
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  Foilsithe: (1982)
• 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.
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  Foilsithe: (1995)
• Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
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  Foilsithe: (1991)