Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

Autor: Kumánovics A; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah. Electronic address: attila.kumanovics@path.utah.edu., Lee YN; Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Mass., Close DW; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah., Coonrod EM; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah., Ujhazi B; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Mass., Chen K; Division of Allergy and Immunology, Department of Pediatrics, University of Utah, Salt Lake City, Utah., MacArthur DG; Analytic and Translational Genetics Unit, Division of Allergy and Immunology, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Mass., Krivan G; United St Laszlo and St Istvan Hospital, Budapest, Hungary., Notarangelo LD; Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Mass., Walter JE; Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Mass; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Mass. Electronic address: jewalter@mgh.harvard.edu.
Jazyk: angličtina
Zdroj: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2017 Feb; Vol. 139 (2), pp. 690-692.e3. Date of Electronic Publication: 2016 Sep 05.
DOI: 10.1016/j.jaci.2016.07.027
Abstrakt: Competing Interests: of potential conflict of interest: The authors have no conflicts of interest to declare.
Databáze: MEDLINE