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.

Ítems similars

• 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.
  per: Alloisio, N, et al.
  Publicat: (1991)
• Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton.
  per: Lorenzo, F, et al.
  Publicat: (1994)
• 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)
• Hybrid spectrin type repeats produced by exon-skipping in dystrophin
  per: Menhart, Nick
  Publicat: (2006)
• A spliceosomal twin intron (stwintron) participates in both exon skipping and evolutionary exon loss
  per: Kavalecz, Napsugár, et al.
  Publicat: (2019)