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Article

Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndrome.

International journal of laboratory hematology - 1 Apr 2022

Mizuta Shumpei, Yamane Noriko, Mononobe Saya, Watanabe Asami, Kitamura Ritsuko, Takahara Tadamori, Matsushima Chieko, Yoshida Atushi, Okamoto Seiji, Tanaka Kuniaki, Iwai Atsushi, Ikegawa Atsuko, Wada Takahito, Usami Ikuya, Maihara Toshiro, Komai Takao, Heike Toshio, Nishida Yoshinobu, Kobayashi Kenichiro

Abstract excerpt

INTRODUCTION: GATA1 mutation plays an important role in initiating transient abnormal myelopoiesis (TAM) and in the clonal evolution towards acute megakaryoblastic leukaemia (AMKL) associated with Down syndrome (DS). This study aimed to develop and validate the clinical utility of a complementary DNA (cDNA) analysis in parallel with the conventional genomic DNA (gDNA) Sanger sequencing (Ss), as an initial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34761527
DOI: 10.1111/ijlh.13756

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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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