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Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

BACKGROUND/AIM: Familial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations on the MEFV gene located on the short arm of chromosome 16. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with...

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Detalles Bibliográficos
Autores principales: SARI, Alper, BODAKÇİ, Erdal, ARMAĞAN, Berkan, SATIŞ, Hasan, ATAŞ, Nuh, YAŞAR BİLGE, Nazife Sule, BİLİCİ SALMAN, Reyhan, YARDIMCI, Gözde Kübra, BABAOĞLU, Hakan, KILIÇ, Levent, ÖZTÜRK, Mehmet Akif, HAZNEDAROĞLU, Şeminur, GÖKER, Berna, KALYONCU, Umut, KAŞİFOĞLU, Timuçin, TUFAN, Abdurrahman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Scientific and Technological Research Council of Turkey 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8569734/
https://www.ncbi.nlm.nih.gov/pubmed/33726481
http://dx.doi.org/10.3906/sag-2011-273