Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.

Li, Ruijuan; Sobreira, Nara; Witmer, P Dane; Pratz, Keith W; Braunstein, Evan M

Li, Ruijuan; Sobreira, Nara; Witmer, P Dane; Pratz, Keith W; Braunstein, Evan M.

Afiliação

Li R; Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA Department of Hematology/Institute of Molecular Hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, China.
Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Witmer PD; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Pratz KW; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Braunstein EM; Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA ebrauns3@jhmi.edu.

Haematologica ; 101(6): e228-31, 2016 06.

Article em En | MEDLINE | ID: mdl-26944477

Assuntos

RNA Helicases DEAD-box/genética; Mutação em Linhagem Germinativa; Leucemia Mieloide Aguda/genética; Síndromes Mielodisplásicas/genética; Proteínas de Neoplasias/genética; Família; Feminino; Humanos; Masculino

Palavras-chave

AML; DDX41; MDS; inherited; novel mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Leucemia Mieloide Aguda / Mutação em Linhagem Germinativa / RNA Helicases DEAD-box / Proteínas de Neoplasias Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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