Analysis of disease-causing GATA1 mutations in murine gene complementation systems.


Missense mutations in transcription factor GATA1 underlie a spectrum of congenital red blood cell and platelet disorders. We investigated how these alterations cause distinct clinical phenotypes by combining structural, biochemical, and genomic approaches with gene complementation systems that examine GATA1 function in biologically relevant cellular… (More)
DOI: 10.1182/blood-2013-03-488080

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