A novel thrombopoietin ( THPO ) mutation altering mRNA splicing in a case of familial thrombocytosis-Reference-Cited by-同舟云学术

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

Published:2020-05-19 Issue:2 Volume:190 Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Prouzet‐Mauléon Valérie¹,Montibus Bertille¹²,Chauveau Aurélie³⁴,Hautin Marie⁴,Migeon Marina⁵,Ka Chandran⁴⁶,Laharanne Elodie⁵,Bidet Audrey⁵,Corcos Laurent⁴,Lippert Eric³⁴^ORCID

Affiliation:

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

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.16742

Reference13 articles.

1. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

2. Thrombocytosis

3. Hereditary myeloproliferative disorders

4. Familial Essential Thrombocythemia Associated With One-Base Deletion in the 5′-Untranslated Region of theThrombopoietin Gene

5. Thrombopoietin Production Is Inhibited by a Translational Mechanism

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1. Relative impact of THPO mutation causing hereditary thrombocythemia;Experimental Hematology;2024-06

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3. Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans;Platelets;2023-11-09

4. Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm;PLOS ONE;2022-12-19

5. Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis;Platelets;2022-07-05