Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome

Here we report two new RUNX1 mutations in one patient with congenital thrombocytopenia that transformed into a high grade myelodysplastic syndrome with myelomonocytic features. The first mutation was a nucleotide base substitution from guanine to adenine within exon 8, resulting in a nonsense mutati...

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Principais autores:	Jessica M. Schmit, Daniel J. Turner, Robert A. Hromas, John R. Wingard, Randy A. Brown, Ying Li, Marilyn M. Li, William B. Slayton, Christopher R. Cogle
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2015-01-01
coleção:	Leukemia Research Reports
Assuntos:	Congenital thrombocytopenia Familial platelet disorder Myelodysplastic syndromes RUNX1
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2213048915000035
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