The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.

@article{May1998TheMB,
  title={The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.},
  author={Alison May and David F. Bishop},
  journal={Haematologica},
  year={1998},
  volume={83 1},
  pages={56-70}
}
Pyridoxine-responsive, X-linked sideroblastic anaemia (XLSA) has been shown to be caused by missense mutations in the erythroid-specific ALA synthase gene, ALAS2. These are scattered widely across the part of the gene encoding the catalytic domain and in half the cases affect residues conserved throughout evolution. Only a loose correlation has been found between the in vitro kinetics and stability of the catalytic activity of the recombinant variant enzymes and the in vivo severity and… CONTINUE READING

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