Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton.

Eitemau Tebyg

• Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.
  gan: Wilmotte, R, et al.
  Cyhoeddwyd: (1993)
• Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.
  gan: Dalla Venezia, N, et al.
  Cyhoeddwyd: (1992)
• Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.
  gan: Alloisio, N, et al.
  Cyhoeddwyd: (1991)
• Molecular defect in the membrane skeleton of blood bank-stored red cells. Abnormal spectrin-protein 4.1-actin complex formation.
  gan: Wolfe, L C, et al.
  Cyhoeddwyd: (1986)
• Structural plasticity of actin-spectrin membrane skeleton and functional role of actin and spectrin in axon degeneration
  gan: Wang, Guiping, et al.
  Cyhoeddwyd: (2019)