Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

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Fältnamn	Indikatorer	Metadata
000		02246naa a2200493 4500
001		oai:DiVA.org:uu-287146
003		SwePub
008		160422s2011 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2871462 URI
024	7	a https://doi.org/10.1038/ng.9232 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Ostergaard, Pia4 aut
245	1 0	a Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
264		c 2011-09-04
264	1	b Springer Science and Business Media LLC,c 2011
338		a print2 rdacarrier
520		a We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.
700	1	a Simpson, Michael A4 aut
700	1	a Connell, Fiona C4 aut
700	1	a Steward, Colin G4 aut
700	1	a Brice, Glen4 aut
700	1	a Woollard, Wesley J4 aut
700	1	a Dafou, Dimitra4 aut
700	1	a Kilo, Tatjana4 aut
700	1	a Smithson, Sarah4 aut
700	1	a Lunt, Peter4 aut
700	1	a Murday, Victoria A4 aut
700	1	a Hodgson, Shirley4 aut
700	1	a Keenan, Russell4 aut
700	1	a Pilz, Daniela T4 aut
700	1	a Martinez-Corral, Ines4 aut
700	1	a Mäkinen, Taija4 aut
700	1	a Mortimer, Peter S4 aut
700	1	a Jeffery, Steve4 aut
700	1	a Trembath, Richard C4 aut
700	1	a Mansour, Sahar4 aut
773	0	t Nature Geneticsd : Springer Science and Business Media LLCg 43:10q 43:10x 1061-4036x 1546-1718
856	4	u http://openaccess.sgul.ac.uk/100980/1/31228_1_art_file_234883_lkm7nt.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-287146
856	4 8	u https://doi.org/10.1038/ng.923

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