A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association.

Ítems similars

• Molecular Defect of Spectrin in Hereditary Pyropoikilocytosis: ALTERATIONS IN THE TRYPSIN-RESISTANT DOMAIN INVOLVED IN SPECTRIN SELF-ASSOCIATION
  per: Lawler, Jack, et al.
  Publicat: (1982)
• Defective spectrin dimer-dimer association with hereditary elliptocytosis.
  per: Liu, S C, et al.
  Publicat: (1982)
• Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis.
  per: Marchesi, S L, et al.
  Publicat: (1987)
• Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.
  per: Coetzer, T L, et al.
  Publicat: (1991)
• A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis.
  per: Hassoun, H, et al.
  Publicat: (1994)