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A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Oleaga-Quintas, Carmen; Deswarte, Caroline; Moncada-Vélez, Marcela; Metin, Ayse; Krishna Rao, Indumathi; Kanik-Yüksek, Saliha; Nieto-Patlán, Alejandro; Guérin, Antoine; Gülhan, Belgin; Murthy, Savita; Özkaya-Parlakay, Aslinur; Abel, Laurent; Martínez-Barricarte, Rubén; Pérez de Diego, Rebeca; Boisson-Dupuis, Stéphanie; Kong, Xiao-Fei; Casanova, Jean-Laurent; Bustamante, Jacinta.
Afiliação
  • Oleaga-Quintas C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
  • Deswarte C; Paris Descartes University, Paris, France.
  • Moncada-Vélez M; Department of Immunology, School of Medicine, Complutense University, Madrid, Spain.
  • Metin A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
  • Krishna Rao I; Paris Descartes University, Paris, France.
  • Kanik-Yüksek S; Primary Immunodeficiencies Group, School of Medicine, University of Antioquia UdeA, Medellin, Colombia.
  • Nieto-Patlán A; Infectious Diseases Unit, Ankara Hematology Oncology Children's Training and Research Hospital, Ankara, Turkey.
  • Guérin A; Department of Pediatrics, St John's Medical College, Bangalore, India.
  • Gülhan B; Infectious Diseases Unit, Ankara Hematology Oncology Children's Training and Research Hospital, Ankara, Turkey.
  • Murthy S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
  • Özkaya-Parlakay A; Paris Descartes University, Paris, France.
  • Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
  • Martínez-Barricarte R; Paris Descartes University, Paris, France.
  • Pérez de Diego R; Infectious Diseases Unit, Ankara Hematology Oncology Children's Training and Research Hospital, Ankara, Turkey.
  • Boisson-Dupuis S; Department of Pediatrics, St John's Medical College, Bangalore, India.
  • Kong XF; Infectious Diseases Unit, Ankara Hematology Oncology Children's Training and Research Hospital, Ankara, Turkey.
  • Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
  • Bustamante J; Paris Descartes University, Paris, France.
Hum Mol Genet ; 28(3): 524, 2019 02 01.
Article em En | MEDLINE | ID: mdl-30329057
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article