title: Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.
authors: 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
authors: C N
authors: CN
authors: Hahn
authors: 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
authors: P J
authors: PJ
authors: Brautigan
authors: 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
authors: C-E
authors: CE
authors: Chong
authors: 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: A
authors: A
authors: Janssan
authors: 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: P
authors: P
authors: Venugopal
authors: 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, South Australia, Australia.
authors: Y
authors: Y
authors: Lee
authors: 1] Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA [2] Seattle Children's Research Institute, Seattle, WA, USA.
authors: A E
authors: AE
authors: Tims
authors: Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA.
authors: M S
authors: MS
authors: Horwitz
authors: 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
authors: M
authors: M
authors: Klingler-Hoffmann
authors: 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Medicine, University of Adelaide, Adelaide, South Australia, Australia [4] School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia [5] School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, South Australia, Australia [6] ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia.
authors: H S
authors: HS
authors: Scott
mesh_terms: D015153:Blotting, Western; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D057809:HEK293 Cells; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D020218:Response Elements / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics* / Q000473:pathology
chemical_list: D050989:GATA2 Transcription Factor