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Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.
Acres, Meghan J; Gothe, Florian; Grainger, Angela; Skelton, Andrew J; Swan, David J; Willet, Joseph D P; Leech, Suzy; Galcheva, Sonya; Iotova, Violeta; Hambleton, Sophie; Engelhardt, Karin R.
Afiliação
  • Acres MJ; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Gothe F; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Department of Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Grainger A; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Skelton AJ; Bioinformatics Support Unit, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Swan DJ; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Willet JDP; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Leech S; Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Galcheva S; Department of Pediatrics, Medical University - Varna, Pediatric Endocrinology, University Hospital "St Marina", Varna, Bulgaria.
  • Iotova V; Department of Pediatrics, Medical University - Varna, Pediatric Endocrinology, University Hospital "St Marina", Varna, Bulgaria.
  • Hambleton S; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Engelhardt KR; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address: karin.engelhardt@newcastle.ac.uk.
J Allergy Clin Immunol ; 143(1): 413-416.e4, 2019 01.
Article em En | MEDLINE | ID: mdl-30205186
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Fator de Transcrição STAT5 Limite: Adolescent / 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: Mutação de Sentido Incorreto / Fator de Transcrição STAT5 Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article