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Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.
Frans, Glynis; Moens, Leen; Schaballie, Heidi; Wuyts, Greet; Liston, Adrian; Poesen, Koen; Janssens, Ann; Rice, Gillian I; Crow, Yanick J; Meyts, Isabelle; Bossuyt, Xavier.
Afiliação
  • Frans G; Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
  • Moens L; Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
  • Schaballie H; Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Wuyts G; Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
  • Liston A; Department of Microbiology and Immunology, Autoimmune Genetics, KU Leuven and VIB, Leuven, Belgium.
  • Poesen K; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
  • Janssens A; Department of Hematology, University Hospitals Leuven, Leuven, Belgium.
  • Rice GI; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Centre, Manchester, United Kingdom.
  • Crow YJ; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Centre, Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité Univer
  • Meyts I; Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Bossuyt X; Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium. Electronic address: xavier.bossuyt@uzleuven.be.
J Allergy Clin Immunol ; 139(1): 360-363.e6, 2017 01.
Article em En | MEDLINE | ID: mdl-27531075
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfócitos B / Mutação de Sentido Incorreto / Síndromes de Imunodeficiência / Nucleotidiltransferases Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfócitos B / Mutação de Sentido Incorreto / Síndromes de Imunodeficiência / Nucleotidiltransferases Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2017 Tipo de documento: Article