Sökning: onr:"swepub:oai:DiVA.org:uu-287146" > Mutations in GATA2 ...
Fältnamn | Indikatorer | Metadata |
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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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