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Article

A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient.

Journal of Korean medical science - 1 Dec 2008

Kim In-Suk, Park Eun Sil, Lim Jae Young, Ki Chang-Seok, Chi Hyun Sook

Abstract excerpt

Although acquired mutations in the GATA1 gene have been reported for Down syndrome-related acute megakaryoblastic leukemia (DS-AMKL) in Caucasians, this is the first report of a Korean Down syndrome patient with AMKL carrying a novel mutation of the GATA1 gene. A 3-yr-old Korean girl with Down syndrome was admitted to our hospital complaining of pallor and fever. The findings of a peripheral blood smear and bone...

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Share to Child, Preschool
Share to Chromosomes, Human, Pair 21

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GATA1 Transcription Factor

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Share to Leukemia, Megakaryoblastic, Acute

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Source

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Identifiers

PMID: 19119459
DOI: 10.3346/jkms.2008.23.6.1105
PMCID: PMC2610649

Genes

GATA1

Variants

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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