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

Lignende værker

• Abnormal oxidant sensitivity and beta-chain structure of spectrin in hereditary spherocytosis associated with defective spectrin-protein 4.1 binding.
  af: Becker, P S, et al.
  Udgivet: (1987)
• β-spectrin(Bari): a truncated β-chain responsible for dominant hereditary spherocytosis
  af: Perrotta, Silverio, et al.
  Udgivet: (2009)
• Spectrin beta-chain variant associated with hereditary elliptocytosis.
  af: Dhermy, D, et al.
  Udgivet: (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.
  af: Hassoun, H, et al.
  Udgivet: (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.
  af: Garbarz, M, et al.
  Udgivet: (1991)