Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature

Norma E. Fox, Rose Chen, Ian Hitchcock, Jennifer Keates-Baleeiro, Haydar Frangoul, Amy E. Geddis

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Biochemistry, Genetics and Molecular Biology

Immunology and Microbiology