A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA.
Ghilardi
N
N
Skoda
R C
RC
D000595:Amino Acid Sequence; D006801:Humans; D008969:Molecular Sequence Data; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000235:genetics; D017384:Sequence Deletion; D013922:Thrombocytosis / Q000235:genetics*; D013926:Thrombopoietin / Q000235:genetics*
D012333:RNA, Messenger; D013926:Thrombopoietin