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Article

Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia.

Journal of medical genetics - 1 Sept 2012

Nielsen Maartje, Vermont Clementien L, Aten Emmelien, Ruivenkamp Claudia A L, van Herrewegen Femke, Santen Gijs W E, Breuning Martijn H

Abstract excerpt

BACKGROUND: Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to...

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Source

Identifiers

PMID: 22972950
DOI: 10.1136/jmedgenet-2012-100990

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22972950-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia.PMID 22972950Read ↗

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