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Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck, David B; Bodian, Dale L; Shah, Vandan; Mirshahi, Uyenlinh L; Kim, Jung; Ding, Yi; Magaziner, Samuel J; Strande, Natasha T; Cantor, Anna; Haley, Jeremy S; Cook, Adam; Hill, Wesley; Schwartz, Alan L; Grayson, Peter C; Ferrada, Marcela A; Kastner, Daniel L; Carey, David J; Stewart, Douglas R.
Afiliação
  • Beck DB; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Bodian DL; Center for Human Genetics and Genomics, New York University School of Medicine.
  • Shah V; Division of Rheumatology, Department of Medicine, New York University School of Medicine.
  • Mirshahi UL; Geisinger Research, North Bethesda, Maryland.
  • Kim J; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania.
  • Ding Y; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania.
  • Magaziner SJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.
  • Strande NT; Department of Laboratory Medicine, Geisinger, Danville, Pennsylvania.
  • Cantor A; Center for Human Genetics and Genomics, New York University School of Medicine.
  • Haley JS; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania.
  • Cook A; Center for Human Genetics and Genomics, New York University School of Medicine.
  • Hill W; Division of Rheumatology, Department of Medicine, New York University School of Medicine.
  • Schwartz AL; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania.
  • Grayson PC; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania.
  • Ferrada MA; Department of Molecular and Functional Genomics, Geisinger, Danville, Pennsylvania.
  • Kastner DL; Department of Pediatrics, Washington University in St Louis, Missouri.
  • Carey DJ; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.
  • Stewart DR; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.
JAMA ; 329(4): 318-324, 2023 01 24.
Article em En | MEDLINE | ID: mdl-36692560

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Síndromes Mielodisplásicas / Enzimas Ativadoras de Ubiquitina Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Revista: JAMA Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Síndromes Mielodisplásicas / Enzimas Ativadoras de Ubiquitina Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Revista: JAMA Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos