Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.

@article{Germeshausen2007IncidenceOC,
  title={Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.},
  author={Manuela Germeshausen and Matthias Ballmaier and Karl Welte},
  journal={Blood},
  year={2007},
  volume={109 1},
  pages={93-9}
}
Point mutations in the gene for the granulocyte colony-stimulating factor (G-CSF) receptor CSF3R have been implicated in the progression of severe congenital neutropenia (CN) to leukemia. In this study we present data on a total of 218 patients with chronic neutropenia, including 148 patients with CN (23/148 with secondary malignancies). We detected CSF3R nonsense mutations at 17 different nucleotide positions (thereof 10 new mutations) which lead to a loss of 1 to all 4 tyrosine residues in… CONTINUE READING
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RAS and G-CSF receptor mutations are mutually exclusive in leukemogenesis in severe congenital neutropenia [abstract

M Germeshausen, C Kratz, M Ballmaier, KM Shannon, K. Welte
Blood • 2005

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