Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).

Antzeko izenburuak

• 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.
  nork: Alloisio, N, et al.
  Argitaratua: (1991)
• Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.
  nork: Tse, W T, et al.
  Argitaratua: (1990)
• 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.
  nork: Wilmotte, R, et al.
  Argitaratua: (1993)
• Three RFLPs are detected by an alpha spectrin genomic clone.
  nork: Hoffman, N, et al.
  Argitaratua: (1987)
• Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.
  nork: Coetzer, T L, et al.
  Argitaratua: (1991)