Point mutations causing the McLeod phenotype

  title={Point mutations causing the McLeod phenotype},
  author={D. Russo and S. Lee and M. Reid and C. Redman},
  • D. Russo, S. Lee, +1 author C. Redman
  • Published 2002
  • Biology, Medicine
  • Transfusion
  • BACKGROUND: The McLeod phenotype is defined by absence of Kx, weakening of Kell system antigens, and acanthocytosis. Individuals with the McLeod phenotype usually develop late‐onset neuromuscular abnormalities. Gene deletions, insertions, and point mutations that affect RNA splicing or that lead to premature stop codons have been reported to cause the McLeod phenotype. The McLeod phenotype may also be caused by mutations at a different splice site and by a novel mutation encoding an amino acid… CONTINUE READING
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