Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

Autor: Özkılınç 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, Acıbadem University, Istanbul, Turkey., Uğurlu S; Division of Rheumatology, Department of Internal Medicine, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Timuçin AC; Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Acıbadem University, Istanbul, Turkey., Öz Arslan D; Biophysics, Department of Basic Sciences, School of Medicine, Acıbadem University, Istanbul, Turkey., Everest E; Department of Molecular Biology and Genetics, Faculty of Science and Letters, Istanbul Technical University, Istanbul, Turkey., Özdoğan H; Division of Rheumatology, Department of Internal Medicine, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Tahir Turanlı E; Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Acıbadem University, Istanbul, Turkey.; Molecular and Translational Biomedicine Program, Graduate School of Natural and Applied Sciences, Acıbadem University, Istanbul, Turkey.

Publikováno v: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2023 Sep 01; Vol. 62 (9), pp. 3188-3196.