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Article

Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia.

Blood - 25 Aug 2011

Alford Kate A, Reinhardt Katarina, Garnett Catherine, Norton Alice, Böhmer Katarina, von Neuhoff Christine, Kolenova Alexandra, Marchi Emanuele, Klusmann Jan-Henning, Roberts Irene, Hasle Henrik, Reinhardt Dirk, Vyas Paresh

Abstract excerpt

Children with Down syndrome (DS) up to the age of 4 years are at a 150-fold excess risk of developing myeloid leukemia (ML-DS). Approximately 4%-5% of newborns with DS develop transient myeloproliferative disorder (TMD). Blast cell structure and immunophenotype are similar in TMD and ML-DS. A mutation in the hematopoietic transcription factor GATA1 is present in almost all cases. Here, we show that simple...

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Source

Identifiers

PMID: 21715302
DOI: 10.1182/blood-2011-03-342774

Genes

GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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