Novel mutations in a child with congenital amegakaryocytic thrombocytopenia.
Pemberton
Lucy C
LC
Levett
Diana
D
Skinner
Roderick
R
Hall
Andrew G
AG
Hanley
John P
JP
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*
D053628:Receptors, Thrombopoietin; C082218:MPL protein, human