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

Lukas Clemens Böckelmann; Titiksha Basu; Albert Gründer; Wei Wang; Jan Breucker; Sandra Kaiser; Andrea Pichler; Heike Luise Pahl

doi:10.3324/haematol.2020.246587

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

Grants and funding

Funding: this work was supported by grants from the Mildred- Scheel-Doktorandenprogramm of the Deutsche Krebshilfe (70110768 to LCB) and by the Deutsche Forschungsgemeinschaft (Pa 611/5-3 to HLP).