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Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
Özkilinç Önen, Merve; Onat, Umut I; Ugurlu, Serdal; Timuçin, Ahmet C; Öz Arslan, Devrim; Everest, Elif; Özdogan, Huri; Tahir Turanli, Eda.
Afiliação
  • Özkilinç Önen M; Molecular Biology-Genetics and Biotechnology Program, Graduate School of Science, Engineering and Technology, Istanbul Technical University, Istanbul, Turkey.
  • Onat UI; Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Acibadem University, Istanbul, Turkey.
  • Ugurlu S; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Timuçin AC; Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Acibadem University, Istanbul, Turkey.
  • Öz Arslan D; Biophysics, Department of Basic Sciences, School of Medicine, Acibadem University, Istanbul, Turkey.
  • Everest E; Department of Molecular Biology and Genetics, Faculty of Science and Letters, Istanbul Technical University, Istanbul, Turkey.
  • Özdogan H; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Tahir Turanli E; Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Acibadem University, Istanbul, Turkey.
Rheumatology (Oxford) ; 62(9): 3188-3196, 2023 09 01.
Article em En | MEDLINE | ID: mdl-36692132
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Febre Familiar do Mediterrâneo / Deficiência de Mevalonato Quinase Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Rheumatology (Oxford) Assunto da revista: REUMATOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Turquia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Febre Familiar do Mediterrâneo / Deficiência de Mevalonato Quinase Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Rheumatology (Oxford) Assunto da revista: REUMATOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Turquia