title: Novel mutations in a child with congenital amegakaryocytic thrombocytopenia.
authors.forename: Lucy C
authors.initials: LC
authors.lastname: Pemberton
authors.forename: Diana
authors.initials: D
authors.lastname: Levett
authors.forename: Roderick
authors.initials: R
authors.lastname: Skinner
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Hall
authors.forename: John P
authors.initials: JP
authors.lastname: Hanley
mesh_terms: D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008533:Megakaryocytes; D010375:Pedigree; D017354:Point Mutation; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human