Dominant inherited ß-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.

Novak, Wolfgang; Sunder-Plassmann, Raute; Berner, Jakob; Köhrer, Stefan; Zeitlhofer, Petra; Haas, Oskar A; Riedl, Julia; Kager, Leo; Sillaber, Christian

Novak, Wolfgang; Sunder-Plassmann, Raute; Berner, Jakob; Köhrer, Stefan; Zeitlhofer, Petra; Haas, Oskar A; Riedl, Julia; Kager, Leo; Sillaber, Christian.

Afiliação

Novak W; Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.
Sunder-Plassmann R; Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
Berner J; Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.
Köhrer S; St. Anna Children's Cancer Research Institute, Vienna, Austria.
Zeitlhofer P; Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.
Haas OA; St. Anna Children's Cancer Research Institute, Vienna, Austria.
Riedl J; St. Anna Children's Cancer Research Institute, Vienna, Austria.
Kager L; Labdia Labordiagnostik, Vienna, Austria.
Sillaber C; Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.

Pediatr Blood Cancer ; 70(10): e30511, 2023 10.

Article em En | MEDLINE | ID: mdl-37353956

Assuntos

Mutação da Fase de Leitura; Talassemia beta; Humanos; Talassemia beta/genética; Polônia; Globinas beta/genética; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Talassemia beta Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Áustria

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