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Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.
Zinngrebe, Julia; Moepps, Barbara; Monecke, Thomas; Gierschik, Peter; Schlichtig, Ferdinand; Barth, Thomas F E; Strauß, Gudrun; Boldrin, Elena; Posovszky, Carsten; Schulz, Ansgar; Beringer, Ortraud; Rieser, Eva; Jacobsen, Eva-Maria; Lorenz, Myriam Ricarda; Schwarz, Klaus; Pannicke, Ulrich; Walczak, Henning; Niessing, Dierk; Schuetz, Catharina; Fischer-Posovszky, Pamela; Debatin, Klaus-Michael.
Afiliación
  • Zinngrebe J; Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
  • Moepps B; Institute of Pharmacology and Toxicology, Ulm University, Ulm, Germany.
  • Monecke T; Institute of Pharmaceutical Biotechnology, Ulm University, Ulm, Germany.
  • Gierschik P; Institute of Pharmacology and Toxicology, Ulm University, Ulm, Germany.
  • Schlichtig F; Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
  • Barth TFE; Department of Pathology, University Medical Center Ulm, Ulm, Germany.
  • Strauß G; Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
  • Boldrin E; Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
  • Posovszky C; Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
  • Schulz A; Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
  • Beringer O; Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
  • Rieser E; Institute of Biochemistry I & CECAD Research Center, University of Cologne, Cologne, Germany.
  • Jacobsen EM; Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
  • Lorenz MR; Institute for Transfusion Medicine, Ulm University, Ulm, Germany.
  • Schwarz K; Institute for Transfusion Medicine, Ulm University, Ulm, Germany.
  • Pannicke U; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, Ulm, Germany.
  • Walczak H; Institute for Transfusion Medicine, Ulm University, Ulm, Germany.
  • Niessing D; Institute of Biochemistry I & CECAD Research Center, University of Cologne, Cologne, Germany.
  • Schuetz C; UCL Cancer Institute, London, UK.
  • Fischer-Posovszky P; Institute of Pharmaceutical Biotechnology, Ulm University, Ulm, Germany.
  • Debatin KM; Pediatric Immunology, Technical University Dresden, Dresden, Germany.
EMBO Mol Med ; 14(3): e14901, 2022 03 07.
Article en En | MEDLINE | ID: mdl-35170849
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Endopeptidasas / Ubiquitina / Enfermedades Autoinflamatorias Hereditarias Tipo de estudio: Risk_factors_studies Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Endopeptidasas / Ubiquitina / Enfermedades Autoinflamatorias Hereditarias Tipo de estudio: Risk_factors_studies Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article