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Article

GATA1 mutations in patients with down syndrome and acute megakaryoblastic leukaemia do not always confer a good prognosis.

Pediatric blood & cancer - 1 Jul 2009

Ariffin Hany, Garcia Jaime Castillo, Daud Siti Sarah, Ibrahim Kamariah, Aizah Nik, Ong Gek-Bee, Chong Lee-Ai, Mohamad Zulqarnain

Abstract excerpt

Children with Down syndrome and acute megakaryoblastic leukemia (DS-AMKL) have been shown to have increased sensitivity to cytarabine based chemotherapy. The excellent prognosis in patients with DS-AMKL may be due to mutations in the GATA1 gene leading to reduced expression of the enzyme cytidine deaminase. This leads to a decreased ability to convert cytarabine into its inactive metabolite, resulting in high...

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Identifiers

PMID: 19260099
DOI: 10.1002/pbc.21983

Genes

GATA1

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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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