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Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome.
Stiburkova, Blanka; Pavelcova, Katerina; Belickova, Monika; Magaziner, Samuel J; Collins, Jason C; Werner, Achim; Beck, David B; Balajkova, Veronika; Salek, Cyril; Vostry, Martin; Mann, Herman; Vencovsky, Jiri.
Afiliação
  • Stiburkova B; Institute of Rheumatology, Department of Rheumatology, and Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Pavelcova K; Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Belickova M; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Magaziner SJ; Center for Human Genetics and Genomics, New York University School of Medicine, New York.
  • Collins JC; National Institute for Dental and Craniofacial Research, NIH, Bethesda, Maryland.
  • Werner A; National Institute for Dental and Craniofacial Research, NIH, Bethesda, Maryland.
  • Beck DB; Center for Human Genetics and Genomics, and Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York.
  • Balajkova V; Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Salek C; Institute of Hematology and Blood Transfusion, and Institute of Clinical and Experimental Haematology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Vostry M; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Mann H; Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Vencovsky J; Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Arthritis Rheumatol ; 75(7): 1285-1290, 2023 07.
Article em En | MEDLINE | ID: mdl-36762418

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Enzimas Ativadoras de Ubiquitina Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male / Middle aged Idioma: En Revista: Arthritis Rheumatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: República Tcheca País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Enzimas Ativadoras de Ubiquitina Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male / Middle aged Idioma: En Revista: Arthritis Rheumatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: República Tcheca País de publicação: Estados Unidos