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Article

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder.

Lancet (London, England) - 10 May 2003

Groet Jürgen, McElwaine Suzanne, Spinelli Monica, Rinaldi Andrea, Burtscher Ingo, Mulligan Claire, Mensah Afua, Cavani Simona, Dagna-Bricarelli Franca, Basso Giuseppe, Cotter Finbarr E, Nizetic Dean

Abstract excerpt

Transient myeloid disorder is a unique self-regressing neoplasia specific to Down's syndrome. The transcription factor GATA1 is needed for normal growth and maturation of erythroid cells and megakaryocytes. Mutations in GATA1 have been reported in acute megakaryoblastic leukaemia in Down's syndrome. We aimed to investigate changes in GATA1 in patients with Down's syndrome and either transient myeloid disorder...

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Share to Erythroid-Specific DNA-Binding Factors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12747884
DOI: 10.1016/S0140-6736(03)13266-7

Genes

GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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