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Article

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

British journal of haematology - 1 Jul 2020

Prouzet-Mauléon Valérie, Montibus Bertille, Chauveau Aurélie, Hautin Marie, Migeon Marina, Ka Chandran, Laharanne Elodie, Bidet Audrey, Corcos Laurent, Lippert Eric

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PMID: 32430933
DOI: 10.1111/bjh.16742

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Related research

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Research trail→

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A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis.PMID 32430933Read ↗

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Relative impact of THPO mutation causing hereditary thrombocythemia.Semantic proximity Read ↗

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In silico analysis of Missense Variants in Human MPL Gene Associated with Essential ThrombocythemiaSemantic proximity Read ↗

The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia.Semantic proximity Read ↗

Inherited THPO mutation, with morphology resembling chronic myeloid leukaemia.Semantic proximity Read ↗

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.Semantic proximity Read ↗

Familial Essential Thrombocythemia Associated With One-Base Deletion in the 5′-Untranslated Region of theThrombopoietin GeneSemantic proximity Read ↗

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Identification of MPL R102P Mutation in Hereditary ThrombocytosisSemantic proximity Read ↗

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