The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans.

@article{Tchilian2001TheEA,
  title={The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans.},
  author={Elma Tchilian and Diana L. Wallace and Nesrina Imami and H. X. Liao and Catherine Burton and Frances Gotch and Jeffrey D. Martinson and Barton F Haynes and Peter Beverley},
  journal={Journal of immunology},
  year={2001},
  volume={166 10},
  pages={6144-8}
}
The leukocyte common (CD45) Ag is essential for normal T lymphocyte function and alternative splicing at the N terminus of the gene is associated with changes in T cell maturation and differentiation. Recently, a statistically significant association was reported in a large series of human thymus samples between phenotypically abnormal CD45 splicing and the presence of the CC chemokine receptor 5 deletion 32 (CCR5del32) allele, which confers resistance to HIV infection in homozygotes. We show… CONTINUE READING
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