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Article

Natural history of GATA1 mutations in Down syndrome.

Blood - 1 Apr 2004

Ahmed Momin, Sternberg Alexander, Hall Georgina, Thomas Angela, Smith Owen, O'Marcaigh Aengus, Wynn Robert, Stevens Richard, Addison Michael, King Derek, Stewart Barbara, Gibson Brenda, Roberts Irene, Vyas Paresh

Abstract excerpt

Acquired mutations in megakaryocyte transcription factor GATA1 have recently been reported in Down syndrome (DS), transient myeloproliferative disorder (TMD), and acute megakaryoblastic leukemia (AMKL). To provide novel insight into GATA1 mutations in DS, genomic DNA was assayed from 12 AMKL and 4 TMD cases (including neonatal, prediagnosis samples in 4 of 16), neonatal blood spots from 21 DS children without...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Erythroid-Specific DNA-Binding Factors

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Source

Identifiers

PMID: 14656875
DOI: 10.1182/blood-2003-10-3383

Genes

GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Natural history of GATA1 mutations in Down syndrome.PMID 14656875Read ↗

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GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia.Semantic proximity Read ↗

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