Concomitant constitutive LNK and NFE2 mutation with loss of sumoylation in a case of hereditary thrombocythemia

Haematologica. 2021 Apr 1;106(4):1158-1162. doi: 10.3324/haematol.2020.246587.

Authors

Lukas Clemens Böckelmann¹, Titiksha Basu¹, Albert Gründer¹, Wei Wang¹, Jan Breucker², Sandra Kaiser¹, Andrea Pichler², Heike Luise Pahl¹

Affiliations

¹ Department of Hematology and Oncology, University Medical Center Freiburg, Germany.
² Department of Epigenetics, Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing
Humans
Mutation
Sumoylation
Thrombocythemia, Essential* / diagnosis
Thrombocythemia, Essential* / genetics
Thrombocytosis*

Substances

Adaptor Proteins, Signal Transducing
SH2B3 protein, human