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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2015-01-01
Series:Leukemia Research Reports
Subjects:
Congenital thrombocytopenia
Familial platelet disorder
Myelodysplastic syndromes
RUNX1
Online Access:http://www.sciencedirect.com/science/article/pii/S2213048915000035

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http://www.sciencedirect.com/science/article/pii/S2213048915000035

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