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Prenatal origin of GATA1 mutations may be an initiating step in the development of megakaryocytic leukemia in Down syndrome

18 Aug 2004

Abstract excerpt

Recently, somatic mutations in exon 2 of the transcription factor GATA1 gene have been detected in essentially all Down syndrome (DS) megakaryocytic leukemia (AMkL) and transient myeloproliferative disorder (TMD) cases.[1][1] This is the most specific genetic abnormality other than trisomy 21 in DS

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PMID: 15317736
DOI: 10.1182/blood-2004-04-1563

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