Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1

Am J Hematol. 2013 Feb;88(2):159-60. doi: 10.1002/ajh.23363. Epub 2012 Dec 17.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alleles
  • Anion Exchange Protein 1, Erythrocyte / chemistry
  • Anion Exchange Protein 1, Erythrocyte / genetics*
  • Anion Exchange Protein 1, Erythrocyte / metabolism
  • Cohort Studies
  • DNA Mutational Analysis
  • Exons
  • Genetic Association Studies
  • Heterozygote
  • Humans
  • Introns
  • Mutation*
  • RNA, Messenger / metabolism
  • Spectrin / analysis
  • Spherocytosis, Hereditary / blood
  • Spherocytosis, Hereditary / genetics*
  • Spherocytosis, Hereditary / metabolism

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • RNA, Messenger
  • SLC4A1 protein, human
  • Spectrin