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 exami...

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Autors principals: Campbell, Amy E., Wilkinson-White, Lorna, Mackay, Joel P., Matthews, Jacqueline M., Blobel, Gerd A.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2013
Matèries:
Red Cells, Iron, and Erythropoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3695365/
https://ncbi.nlm.nih.gov/pubmed/23704091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-03-488080
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