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Article

Mutation characterization in the GATA-1 gene in patients with Down's Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia.

Archivos argentinos de pediatria - 1 Dec 2013

Mansini Adrián P, Rubio Patricia L, Rossi Jorge G, Gallego Marta S, Medina Adriana, Zubizarreta Pedro A, Felice María S, Alonso Cristina N

Abstract excerpt

Patients with Down's Syndrome have a higher risk of developing acute megakaryoblastic leukemia (AML). Ten per cent of newborn infants with this syndrome have transient abnormal myelopoiesis (TAM), indistinguishable from AML, which generally remits spontaneously. A high incidence of GATA-1 gene mutations was described in both groups of patients. Fourteen bone marrow DNA samples (10 ATM/4 AML) were analyzed by PCR...

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PMID: 24196768
DOI: 10.5546/aap.2013.eng.532

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ATM

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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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