Identification of MPL R102P Mutation in Hereditary Thrombocytosis

Identification of MPL R102P Mutation in Hereditary Thrombocytosis

The molecular basis of hereditary thrombocytosis is germline mutations affecting the thrombopoietin (TPO)/TPO receptor (MPL)/JAK2 signaling axis. Here, we report one family presenting two cases with a mild thrombocytosis. By sequencing JAK2 and MPL coding exons, we identified a germline MPL R102P he...

Full description

Bibliographic Details
Main Authors: Christine Bellanné-Chantelot, Matthieu Mosca, Caroline Marty, Rémi Favier, William Vainchenker, Isabelle Plo
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-09-01
Series:Frontiers in Endocrinology
Subjects:
thrombopoietin
JAK2
MPL R102P
thrombocytosis
thrombocytopenia
CAMT
Online Access:http://journal.frontiersin.org/article/10.3389/fendo.2017.00235/full

Internet

http://journal.frontiersin.org/article/10.3389/fendo.2017.00235/full

Similar Items