A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
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| Title: | A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes. |
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| Authors: | Kager L; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria., Jimenez-Heredia R; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria., Zeitlhofer P; Labdia Labordiagnostik Vienna Austria., Novak W; St. Anna Children's Hospital Medical University of Vienna Vienna Austria., Eder SK; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria., Segarra-Roca A; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria., Frohne A; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria., Nebral K; Labdia Labordiagnostik Vienna Austria., Haimel M; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria., Geyeregger R; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria., Roetzer-Londgin K; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Labdia Labordiagnostik Vienna Austria., Haas OA; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Labdia Labordiagnostik Vienna Austria., Boztug K; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria. |
| Source: | HemaSphere [Hemasphere] 2024 Jan 26; Vol. 8 (1), pp. e31. Date of Electronic Publication: 2024 Jan 26 (Print Publication: 2024). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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