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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35533071 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Engvall+M%22">Engvall M</searchLink>; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Karlsson+Y%22">Karlsson Y</searchLink>; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Kuchinskaya+E%22">Kuchinskaya E</searchLink>; Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.<br /><searchLink fieldCode="AU" term="%22Jörnegren+Å%22">Jörnegren Å</searchLink>; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden.<br /><searchLink fieldCode="AU" term="%22Mathot+L%22">Mathot L</searchLink>; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Pandzic+T%22">Pandzic T</searchLink>; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Palle+J%22">Palle J</searchLink>; Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Ljungström+V%22">Ljungström V</searchLink>; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Cavelier+L%22">Cavelier L</searchLink>; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Hellström+Lindberg+E%22">Hellström Lindberg E</searchLink>; Department of Medicine, Division of Hematology, Huddinge, Karolinska University Hospital, Stockholm, Sweden.; Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Cammenga+J%22">Cammenga J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Baliakas+P%22">Baliakas P</searchLink>; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229007422%22">Leukemia & lymphoma</searchLink> [Leuk Lymphoma] 2022 Oct; Vol. 63 (10), pp. 2311-2320. <i>Date of Electronic Publication: </i>2022 May 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Taylor+%26+Francis%22">Taylor & Francis </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9007422 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1029-2403 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210268022%22">10268022 </searchLink><i>NLM ISO Abbreviation: </i>Leuk Lymphoma <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35533071 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/10428194.2022.2067997 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2311 Titles: – TitleFull: Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Engvall M – PersonEntity: Name: NameFull: Karlsson Y – PersonEntity: Name: NameFull: Kuchinskaya E – PersonEntity: Name: NameFull: Jörnegren Å – PersonEntity: Name: NameFull: Mathot L – PersonEntity: Name: NameFull: Pandzic T – PersonEntity: Name: NameFull: Palle J – PersonEntity: Name: NameFull: Ljungström V – PersonEntity: Name: NameFull: Cavelier L – PersonEntity: Name: NameFull: Hellström Lindberg E – PersonEntity: Name: NameFull: Cammenga J – PersonEntity: Name: NameFull: Baliakas P IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: 2022 Oct Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1029-2403 Numbering: – Type: volume Value: 63 – Type: issue Value: 10 Titles: – TitleFull: Leukemia & lymphoma Type: main |
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