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Article

Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia.

Blood - 25 Nov 2010

Kanezaki Rika, Toki Tsutomu, Terui Kiminori, Xu Gang, Wang Runan, Shimada Akira, Hama Asahito, Kanegane Hirokazu, Kawakami Kiyoshi, Endo Mikiya, Hasegawa Daisuke, Kogawa Kazuhiro, Adachi Souichi, Ikeda Yasuhiko, Iwamoto Shotaro, Taga Takashi, Kosaka Yoshiyuki, Kojima Seiji, Hayashi Yasuhide, Ito Etsuro

Abstract excerpt

Twenty percent to 30% of transient abnormal myelopoiesis (TAM) observed in newborns with Down syndrome (DS) develop myeloid leukemia of DS (ML-DS). Most cases of TAM carry somatic GATA1 mutations resulting in the exclusive expression of a truncated protein (GATA1s). However, there are no reports...

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Source

Identifiers

PMID: 20729467
DOI: 10.1182/blood-2010-05-282426

Genes

GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20729467-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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