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Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).
Duncan, Christopher J A; Dinnigan, Emma; Theobald, Rachel; Grainger, Angela; Skelton, Andrew J; Hussain, Rafiqul; Willet, Joseph D P; Swan, David J; Coxhead, Jonathan; Thomas, Matthew F; Thomas, Julian; Zamvar, Veena; Slatter, Mary A; Cant, Andrew J; Engelhardt, Karin R; Hambleton, Sophie.
Afiliação
  • Duncan CJA; Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
  • Dinnigan E; Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
  • Theobald R; Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
  • Grainger A; Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
  • Skelton AJ; Bioinformatics Support Unit, Institute for Cellular Medicine, Newcastle University, UK.
  • Hussain R; Genomic Core Facility, Institute for Genetic Medicine, Newcastle University, UK.
  • Willet JDP; Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
  • Swan DJ; Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
  • Coxhead J; Genomic Core Facility, Institute for Genetic Medicine, Newcastle University, UK.
  • Thomas MF; Department of Paediatric Respiratory Medicine, Great North Children's Hospital, Royal Victoria Infirmary, UK.
  • Thomas J; Department of Paediatric Gastroenterology, Great North Children's Hospital, Royal Victoria Infirmary, UK.
  • Zamvar V; Department of Paediatric Gastroenterology, Leeds General Infirmary, UK.
  • Slatter MA; Department of Paediatric Immunology and Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, UK.
  • Cant AJ; Department of Paediatric Immunology and Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, UK.
  • Engelhardt KR; Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
  • Hambleton S; Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
Ann Rheum Dis ; 77(5): 783-786, 2018 05.
Article em En | MEDLINE | ID: mdl-28659290

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Perda de Heterozigosidade / Proteína 3 Induzida por Fator de Necrose Tumoral alfa / Mutação com Perda de Função Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Perda de Heterozigosidade / Proteína 3 Induzida por Fator de Necrose Tumoral alfa / Mutação com Perda de Função Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article