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Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Maffucci, Patrick; Chavez, Jose; Jurkiw, Thomas J; O'Brien, Patrick J; Abbott, Jordan K; Reynolds, Paul R; Worth, Austen; Notarangelo, Luigi D; Felgentreff, Kerstin; Cortes, Patricia; Boisson, Bertrand; Radigan, Lin; Cobat, Aurélie; Dinakar, Chitra; Ehlayel, Mohammad; Ben-Omran, Tawfeg; Gelfand, Erwin W; Casanova, Jean-Laurent; Cunningham-Rundles, Charlotte.
Afiliación
  • Maffucci P; Division of Clinical Immunology, Departments of Medicine and Pediatrics, and.
  • Chavez J; Graduate School of Biomedical Sciences, Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Jurkiw TJ; Division of Clinical Immunology, Departments of Medicine and Pediatrics, and.
  • O'Brien PJ; Department of Biological Chemistry, University of Michigan, Ann Arbor, Michigan, USA.
  • Abbott JK; Department of Biological Chemistry, University of Michigan, Ann Arbor, Michigan, USA.
  • Reynolds PR; Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, Colorado, USA.
  • Worth A; Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, Colorado, USA.
  • Notarangelo LD; Department of Pediatric Medicine, Great Ormond Street Hospital for Children, London, United Kingdom.
  • Felgentreff K; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Cortes P; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
  • Boisson B; Department of Molecular, Cellular and Biomedical Science, CUNY School of Medicine, City College of New York, New York, New York, USA.
  • Radigan L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Cobat A; Paris Descartes University, Imagine Institute, Paris, France.
  • Dinakar C; Division of Clinical Immunology, Departments of Medicine and Pediatrics, and.
  • Ehlayel M; Paris Descartes University, Imagine Institute, Paris, France.
  • Ben-Omran T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Gelfand EW; Allergy, Asthma & Immunodeficiency, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Stanford University, Stanford, California, USA.
  • Casanova JL; Section of Pediatric Allergy-Immunology, Department of Pediatrics, Weill Cornell Medical College, Hamad Medical Corporation, Doha, Qatar.
  • Cunningham-Rundles C; Department of Clinical and Metabolic Genetics, Department of Pediatrics, Weill Cornell Medical College, Hamad Medical Corporation, Doha, Qatar.
J Clin Invest ; 128(12): 5489-5504, 2018 12 03.
Article en En | MEDLINE | ID: mdl-30395541
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Alelos / ADN Ligasa (ATP) / Síndromes de Inmunodeficiencia / Mutación Límite: Humans Idioma: En Revista: J Clin Invest Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Alelos / ADN Ligasa (ATP) / Síndromes de Inmunodeficiencia / Mutación Límite: Humans Idioma: En Revista: J Clin Invest Año: 2018 Tipo del documento: Article