Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia.

@article{Tidow1997ClinicalRO,
  title={Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia.},
  author={Nicola Tidow and Christina Pilz and Birgit Teichmann and A M{\"u}ller-Brechlin and Manuela Germeshausen and Brigitte Kasper and P Rauprich and K W Sykora and Karl Welte},
  journal={Blood},
  year={1997},
  volume={89 7},
  pages={2369-75}
}
Recently, point mutations in the gene of the granulocyte colony-stimulating factor (G-CSF) receptor have been reported in two patients with severe congenital neutropenia who developed acute myeloid leukemia (AML). We investigated the frequency of these specific G-CSF receptor mutations in patients with congenital neutropenia undergoing treatment with r-metHuG-CSF (Filgrastim) and the clinical relevance of these mutations. Nucleotides 2306 to 2561 including the critical region (nucleotides 2384… CONTINUE READING

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