期刊
NATURE GENETICS
卷 43, 期 10, 页码 929-931出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.923
关键词
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资金
- British Heart Foundation (BHF) [RG/08/006/25302, PG/10/58/28477, FS/06/063/21445]
- Department of Health through the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre
- British Heart Foundation [PG/10/58/28477, RG/08/006/25302] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0507-10379] Funding Source: researchfish
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.
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