Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis.

Lazana, Ioanna; Mohamedali, Azim; Smith, Frances; de Lavallade, Hugues; McLornan, Donal; Raj, Kavita

Lazana, Ioanna; Mohamedali, Azim; Smith, Frances; de Lavallade, Hugues; McLornan, Donal; Raj, Kavita.

Afiliação

Lazana I; Department of Haematological Medicine, King's College Hospital NHS Foundation Trust, London, UK.
Mohamedali A; Department of Haematological Medicine, King's College London School of Medicine, London, UK.
Smith F; Department of Molecular Pathology, King's College Hospital NHS Foundation Trust, London, UK.
de Lavallade H; Department of Haematological Medicine, King's College Hospital NHS Foundation Trust, London, UK.
McLornan D; Department of Haematological Medicine, King's College London School of Medicine, London, UK.
Raj K; Department of Haematological Medicine, King's College London School of Medicine, London, UK.

Br J Haematol ; 192(1): 220-223, 2021 01.

Article em En | MEDLINE | ID: mdl-33216349

Assuntos

Bisfosfoglicerato Mutase/genética; Policitemia/genética; Dissomia Uniparental/genética; Feminino; Humanos; Perda de Heterozigosidade; Pessoa de Meia-Idade

Palavras-chave

BPGM gene; erythrocytosis; loss of heterozygosity (LOH); mutations; uniparental disomy (UPD)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Policitemia / Bisfosfoglicerato Mutase / Dissomia Uniparental Limite: Female / Humans / Middle aged Idioma: En Revista: Br J Haematol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido

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