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Article

Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome.

Blood - 15 Sept 2007

Pine Sharon R, Guo Qianxu, Yin Changhong, Jayabose Somasundaram, Druschel Charlotte M, Sandoval Claudio

Abstract excerpt

Somatic mutations in the GATA1 gene are present in almost all cases of Down syndrome (DS)-associated acute megakaryoblastic leukemia (AMKL) and transient leukemia (TL). An in utero origin of the GATA1 mutation suggests it is an early leukemogenic event. To determine the detectable incidence and clinical relevance of GATA1 mutations in DS newborns, we screened Guthrie cards from 590 DS infants for mutations in the...

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Share to Down Syndrome
Share to GATA1 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Leukemia, Megakaryoblastic, Acute

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Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 17576817
DOI: 10.1182/blood-2007-01-069542

Genes

GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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