Condition: THROMBOCYTHEMIA 2


rs121913614 in MPL gene and THROMBOCYTHEMIA 2 PMID 25538044 2015 The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.

PMID 23441089 2013 MPL W515L mutation in pediatric essential thrombocythemia.

PMID 14764528 2004 Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.

PMID 19483125 2009 The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity.