Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

@article{Song1999HaploinsufficiencyOC,
  title={Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia},
  author={W Song and Melanie G. Sullivan and Robert D. Legare and Sarah Hutchings and Xiaolian Tan and Dubravka Kufrin and Janina Ratajczak and Isabel C. Resende and Catherine Haworth and Randy A. Hock and M. K. Loh and Carolyn A. Felix and D. Roy and Lambert Busque and David M. Kurnit and Cheryl Willman and Alan M. Gewirtz and Nancy A Speck and John H. Bushweller and Frederick P. Li and Katheleen Gardiner and M. Poncz and John M. Maris and Dwight Gary Gilliland},
  journal={Nature Genetics},
  year={1999},
  volume={23},
  pages={166-175}
}
Familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD/AML, MIM 601399) is an autosomal dominant disorder characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukaemia (AML). Informative recombination events in 6 FPD/AML pedigrees with evidence of linkage to markers on chromosome 21q identified an 880-kb interval containing the disease gene. Mutational analysis of regional candidate genes showed nonsense… CONTINUE READING
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