Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia

Leukemia

Volumn 29, Issue 8, 2015, Pages 1795-1797

  Hahn, C N ^a,b,c   Brautigan, P J ^a,b   Chong, C E ^a,b   Janssan, A ^a,b,c   Venugopal, P ^a,b,c   Lee, Y ^a,b   Tims, A E ^d,e   Horwitz, M S ^d   Klingler Hoffmann, M ^a,b,c   Scott, H S ^a,b,c,f  

^a SA Pathology ^*  (Australia)

^b UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^f CENTRE FOR CANCER BIOLOGY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 2;

ACUTE MYELOBLASTIC LEUKEMIA; BINDING SITE; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GERMLINE MUTATION; HEK293 CELL LINE; HUMAN; LETTER; MISSENSE MUTATION; MYELODYSPLASTIC SYNDROME; PEDIGREE; PRIORITY JOURNAL; PROTEIN FUNCTION; THROMBOCYTOPENIA; TRANSACTIVATION; WESTERN BLOTTING; DNA RESPONSIVE ELEMENT; FEMALE; GENETICS; MALE; MIDDLE AGED; PATHOLOGY;

BLOTTING, WESTERN; FEMALE; GATA2 TRANSCRIPTION FACTOR; GERM-LINE MUTATION; HEK293 CELLS; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES; PEDIGREE; RESPONSE ELEMENTS; THROMBOCYTOPENIA;

EID: 84938966132     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2015.40     Document Type: Letter

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