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.

Affiliation

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 in En | MEDLINE | ID: mdl-37353956

Subject(s)

Frameshift Mutation; beta-Thalassemia; Humans; beta-Thalassemia/genetics; Poland; beta-Globins/genetics; Mutation

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Beta-Thalassemia Limits: Humans Country/Region as subject: Europa Language: En Journal: Pediatr Blood Cancer Journal subject: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Year: 2023 Type: Article Affiliation country: Austria

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