Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium.
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| Title: | Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium. |
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| Authors: | Engvall M; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Karlsson Y; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Kuchinskaya E; Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden., Jörnegren Å; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden., Mathot L; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Pandzic T; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Palle J; Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden., Ljungström V; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Cavelier L; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Hellström Lindberg E; Department of Medicine, Division of Hematology, Huddinge, Karolinska University Hospital, Stockholm, Sweden.; Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden., Cammenga J; Department of Hematology, Linköping University Hospital, Linköping, Sweden.; Department of Molecular Medicine and Virology (MMV), Division of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden., Baliakas P; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden. |
| Source: | Leukemia & lymphoma [Leuk Lymphoma] 2022 Oct; Vol. 63 (10), pp. 2311-2320. Date of Electronic Publication: 2022 May 09. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9007422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1029-2403 (Electronic) Linking ISSN: 10268022 NLM ISO Abbreviation: Leuk Lymphoma Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1029-2403 |
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| DOI: | 10.1080/10428194.2022.2067997 |
