Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia.
Chung HS et al.
Pediatric Blood & Cancer, 2011
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
Ballmaier M et al.
British Journal of Haematology, 2009
19388932 (PubMed )
Supplement: supplement_1.pdf
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
Fox NE et al.
Experimental Hematology, 2009
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
Savoia A et al.
Haematologica, 2007
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