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

Abstract excerpt

OBJECTIVE: To genetically and functionally characterize mutations of c-Mpl that lead to thrombocytopenia in a child with congenital amegakaryocytic thrombocytopenia. MATERIALS AND METHODS: We identified two c-Mpl mutations in a child with clinical features of congenital amegakaryocytic thrombocytopenia, one a previously described mutation in the extracellular domain (R102P) and the other a novel mutation leading...

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