Condition: Myelofibrosis


rs121913615 in MPL gene and Myelofibrosis PMID 16868251 2006 MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.

PMID 16834459 2006 DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.

PMID 16834459 2006 MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.