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Article

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

Blood - 1 Jul 2001

Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C, Minner K, Hoylaerts M F, Vermylen J, Van Geet C

Abstract excerpt

A new mutation is described in the X-linked gene GATA1, resulting in macrothrombocytopenia and mild dyserythropoietic features but no marked anemia in a 4-generation family. The molecular basis for the observed phenotype is a substitution of glycine for aspartate in the strictly conserved codon 218 (D218G) of the amino-terminal zinc finger loop of the transcription factor GATA1. Zinc finger interaction studies...

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Source

Identifiers

PMID: 11418466
DOI: 10.1182/blood.v98.1.85

Genes

GATA1

Provenance

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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Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.PMID 11418466Read ↗

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