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A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
Strubbe, Steven; De Bruyne, Marieke; Pannicke, Ulrich; Beyls, Elien; Vandekerckhove, Bart; Leclercq, Georges; De Baere, Elfride; Bordon, Victoria; Vral, Anne; Schwarz, Klaus; Haerynck, Filomeen; Taghon, Tom.
Afiliación
  • Strubbe S; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.
  • De Bruyne M; Center for Medical Genetics Ghent (CMGG), Ghent, Belgium.
  • Pannicke U; The Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
  • Beyls E; Department of Human Structure and Repair, Ghent University, Ghent, Belgium.
  • Vandekerckhove B; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.
  • Leclercq G; Cancer Research Institute Ghent (CRIG), Ghent, Belgium.
  • De Baere E; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.
  • Bordon V; Cancer Research Institute Ghent (CRIG), Ghent, Belgium.
  • Vral A; Center for Medical Genetics Ghent (CMGG), Ghent, Belgium.
  • Schwarz K; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Haerynck F; Department of Internal Medicine and Pediatrics, Division of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
  • Taghon T; Department of Human Structure and Repair, Ghent University, Ghent, Belgium.
Front Immunol ; 12: 674226, 2021.
Article en En | MEDLINE | ID: mdl-34220820
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Proteínas de Unión al ADN / Reparación del ADN / Endonucleasas / Recombinación V(D)J Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Immunol Año: 2021 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Proteínas de Unión al ADN / Reparación del ADN / Endonucleasas / Recombinación V(D)J Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Immunol Año: 2021 Tipo del documento: Article