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.

Ítems similars

• 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.
  per: Wilmotte, R, et al.
  Publicat: (1993)
• Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis.
  per: Marchesi, S L, et al.
  Publicat: (1987)
• 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).
  per: Morlé, L, et al.
  Publicat: (1990)
• Spectrin beta-chain variant associated with hereditary elliptocytosis.
  per: Dhermy, D, et al.
  Publicat: (1982)
• Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.
  per: Dalla Venezia, N, et al.
  Publicat: (1992)