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

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

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

Afiliação

Prouzet-Mauléon V; INSERM U1035, Université de Bordeaux, Bordeaux, France.
Montibus B; INSERM U1035, Université de Bordeaux, Bordeaux, France.
Chauveau A; Department of Medical and Molecular Genetics, King's College London, London, UK.
Hautin M; Laboratoire d'Hématologie, CHU de Brest, Brest, France.
Migeon M; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Ka C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Laharanne E; Laboratoire d'Hématologie, CHU de Bordeaux, Bordeaux, France.
Bidet A; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Corcos L; Service de Génétique Médicale, CHU de Brest, Brest, France.
Lippert E; Laboratoire d'Hématologie, CHU de Bordeaux, Bordeaux, France.

Br J Haematol ; 190(2): e104-e107, 2020 07.

Article em En | MEDLINE | ID: mdl-32430933

Assuntos

Splicing de RNA/genética; Trombocitose/genética; Trombopoetina/metabolismo; Adolescente; Mutação em Linhagem Germinativa; Humanos; Masculino; Mutação

Palavras-chave

familial thrombocytosis; splicing; thrombopoietin

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitose / Trombopoetina / Splicing de RNA Limite: Adolescent / Humans / Male Idioma: En Revista: Br J Haematol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França

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