A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis

Br J Haematol. 2020 Jul;190(2):e104-e107. doi: 10.1111/bjh.16742. Epub 2020 May 19.

Authors

Valérie Prouzet-Mauléon¹, Bertille Montibus^{1

2}, Aurélie Chauveau^{3

4}, Marie Hautin⁴, Marina Migeon⁵, Chandran Ka^{4

6}, Elodie Laharanne⁵, Audrey Bidet⁵, Laurent Corcos⁴, Eric Lippert^{3

4}

Affiliations

¹ INSERM U1035, Université de Bordeaux, Bordeaux, France.
² Department of Medical and Molecular Genetics, King's College London, London, UK.
³ Laboratoire d'Hématologie, CHU de Brest, Brest, France.
⁴ Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
⁵ Laboratoire d'Hématologie, CHU de Bordeaux, Bordeaux, France.
⁶ Service de Génétique Médicale, CHU de Brest, Brest, France.

PMID: 32430933
DOI: 10.1111/bjh.16742

No abstract available

Keywords: familial thrombocytosis; splicing; thrombopoietin.

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Germ-Line Mutation
Humans
Male
Mutation
RNA Splicing / genetics*
Thrombocytosis / genetics*
Thrombopoietin / metabolism*

Substances

Thrombopoietin