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LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.
Rosain, Jérémie; Deswarte, Caroline; Hancioglu, Gonca; Oleaga-Quintas, Carmen; Kutlug, Seyhan; Kartal, Ibrahim; Kuzu, Isinsu; Toullec, Laurie; Tusseau, Maud; Casanova, Jean-Laurent; Yildiran, Alisan; Bustamante, Jacinta.
Afiliação
  • Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France. jeremie.rosain@inserm.fr.
  • Deswarte C; Imagine Institute, Paris University, Paris, EU, France. jeremie.rosain@inserm.fr.
  • Hancioglu G; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, EU, France. jeremie.rosain@inserm.fr.
  • Oleaga-Quintas C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France.
  • Kutlug S; Imagine Institute, Paris University, Paris, EU, France.
  • Kartal I; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
  • Kuzu I; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France.
  • Toullec L; Imagine Institute, Paris University, Paris, EU, France.
  • Tusseau M; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
  • Casanova JL; Department of Pediatric Hematology-Oncology, Ondokuz Mayis University, Samsun, Turkey.
  • Yildiran A; Department of Pathology, Ankara University, Ankara, Turkey.
  • Bustamante J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, EU, France.
J Clin Immunol ; 39(7): 739-742, 2019 10.
Article em En | MEDLINE | ID: mdl-31377971
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Elementos de DNA Transponíveis / Receptores de Interferon / Elementos Nucleotídeos Longos e Dispersos / Elementos Alu / Genes Recessivos Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Elementos de DNA Transponíveis / Receptores de Interferon / Elementos Nucleotídeos Longos e Dispersos / Elementos Alu / Genes Recessivos Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article