Associated Papers
Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome Engineering.
Jung M et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2015
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling.
Hirata S et al.
The Journal of Clinical Investigation, 2013
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
Ballmaier M et al.
British Journal of Haematology, 2009
19388932 (PubMed )
Supplement: supplement_1.pdf
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT).
Tonelli R et al.
Human Genetics, 2000
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia.
Ihara K et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
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