First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita.

Magnusson, Tylan; Godby, Richard C; Bachiashvili, Kimo; Jamy, Omer

Magnusson, Tylan; Godby, Richard C; Bachiashvili, Kimo; Jamy, Omer.

Afiliação

Magnusson T; Division of General Internal Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Godby RC; Division of General Internal Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Bachiashvili K; Division of Hematology Oncology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Jamy O; Division of Hematology Oncology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.

Br J Haematol ; 196(4): e27-e29, 2022 02.

Article em En | MEDLINE | ID: mdl-34649303

Assuntos

Disceratose Congênita/genética; Adulto; Heterozigoto; Humanos; Masculino; Mutação

Palavras-chave

WRAP53; chemotherapy; dyskeratosis congenita; heterozygous; myeloid neoplasm

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Disceratose Congênita Tipo de estudo: Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Revista: Br J Haematol Ano de publicação: 2022 Tipo de documento: Article

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