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Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.
Schnappauf, Oskar; Heale, Liane; Dissanayake, Dilan; Tsai, Wanxia L; Gadina, Massimo; Leto, Thomas L; Kastner, Daniel L; Malech, Harry L; Kuhns, Douglas B; Aksentijevich, Ivona; Laxer, Ronald M.
Affiliation
  • Schnappauf O; National Human Genome Research Institute, National Institutes of Health, Bethesda, USA. oskar.schnappauf@nih.gov.
  • Heale L; The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Dissanayake D; The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • Tsai WL; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, USA.
  • Gadina M; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, USA.
  • Leto TL; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
  • Kastner DL; National Human Genome Research Institute, National Institutes of Health, Bethesda, USA.
  • Malech HL; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
  • Kuhns DB; Frederick National Laboratory for Cancer Research, Frederick, USA.
  • Aksentijevich I; National Human Genome Research Institute, National Institutes of Health, Bethesda, USA.
  • Laxer RM; The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Pediatr Rheumatol Online J ; 19(1): 54, 2021 Apr 23.
Article in En | MEDLINE | ID: mdl-33892719
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoimmune Diseases / Interferons / NADPH Oxidases Type of study: Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Pediatr Rheumatol Online J Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoimmune Diseases / Interferons / NADPH Oxidases Type of study: Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Pediatr Rheumatol Online J Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido