Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.

@article{Alloisio1997ModulationOC,
  title={Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.},
  author={N. Alloisio and P. Texier and A. Vallier and M. Ribeiro and L. Morl{\'e} and M. Bozon and E. Bursaux and P. Maillet and P. Gonçalves and M. Tanner and G. Tamagnini and J. Delaunay},
  journal={Blood},
  year={1997},
  volume={90 1},
  pages={
          414-20
        }
}
We present two novel alleles of the anion-exchanger 1 (AE1) gene, allele Coimbra and allele Mondego. Allele Coimbra (V488M, GTG --> ATG) affects a conserved position in the putative second ectoplasmic loop of erythrocyte band 3. In 15 simple heterozygotes, it yielded a mild form of hereditary spherocytosis (HS) with band 3 deficiency (-20% +/- 2%) and a reduced number of 4,4'-diisothiocyano-1,2-diphenylethane-2,2'-disulfonate (H2DIDS) binding sites (-35%). However, two additional heterozygotes… Expand
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References

SHOWING 1-10 OF 42 REFERENCES
Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas).
  • 37
  • PDF
Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency
  • 80
  • PDF
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).
  • 95
  • PDF
Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
  • 93
  • PDF
Ankyrin–1 mutations are a major cause of dominant and recessive hereditary spherocytosis
  • 203
Band 3 Chur: a variant associated with band 3‐deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11
  • 38
HEREDITARY SPHEROCYTOSIS CHARACTERIZED BY INCREASED SPECTRIN/BAND 3 RATIO
  • 20
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
  • 43
  • PDF
Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore).
  • 84
  • PDF
Defective anion transport activity of the abnormal band 3 in hereditary ovalocytic red blood cells
  • 165
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