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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Detalles Bibliográficos
Autores principales: Schmit, Jessica M., Turner, Daniel J., Hromas, Robert A., Wingard, John R., Brown, Randy A., Li, Ying, Li, Marilyn M., Slayton, William B., Cogle, Christopher R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398854/
https://www.ncbi.nlm.nih.gov/pubmed/25893166
http://dx.doi.org/10.1016/j.lrr.2015.03.002

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