Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

@article{Yamaguchi2005MutationsIT,
  title={Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.},
  author={Hiroki Yamaguchi and Rodrigo T. Calado and Hinh Ly and Sachiko Kajigaya and Gabriela M. Baerlocher and Stephen J. Chanock and Peter M. Lansdorp and Neal S. Young},
  journal={The New England journal of medicine},
  year={2005},
  volume={352 14},
  pages={1413-24}
}
BACKGROUND Mutations in TERC, the gene for the RNA component of telomerase, cause short telomeres in congenital aplastic anemia and in some cases of apparently acquired hematopoietic failure. We investigated whether mutations in genes for other components of telomerase also occur in aplastic anemia. METHODS We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282 control subjects for sequence variations in the TERT, DKC1, NHP2, and NOP10 genes; an… CONTINUE READING
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