Article
A functional single-nucleotide polymorphism of the G-CSF receptor gene predisposes individuals to high-risk myelodysplastic syndrome.
Blood - 1 May 2005
Wölfler Albert, Erkeland Stefan J, Bodner Claudia, Valkhof Marijke, Renner Wilfried, Leitner Christina, Olipitz Werner, Pfeilstöcker Michael, Tinchon Christoph, Emberger Werner, Linkesch Werner, Touw Ivo P, Sill Heinz
Abstract excerpt
The granulocyte colony-stimulating factor receptor (G-CSF-R) transmits signals for proliferation and differentiation of myeloid progenitor cells. Here we report on the identification of a rare single nucleotide polymorphism within its intracellular domain (G-CSF-R_Glu785Lys). Screening a cohort of 116 patients with primary myelodysplastic syndromes (MDS), de novo acute myeloid leukemia (AML) (84 patients), as...
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