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Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor ( c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)

ThrombopoiesisGenetic DisorderCongenital Amegakaryocytic ThrombocytopeniaGeneticsInherited Metabolic DiseaseHematologyMolecular BiologyMolecular GeneticsMedicineC-mpl GeneVariant InterpretationCompound Heterozygosity