Clinical features and disease severity of Turkish FMF children carrying E148Q mutation

BACKGROUND: Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease‐causing mutation. The aim of this study was to evaluate the clin...

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Detalhes bibliográficos
Publicado no:J Clin Lab Anal
Main Authors: Aydın, Fatma, Çakar, Nilgün, Özçakar, Zeynep Birsin, Uncu, Nermin, Başaran, Özge, Özdel, Semanur, Çelikel, Elif, Elhan, Atilla H., Yalçınkaya, Fatoş
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6528560/
https://ncbi.nlm.nih.gov/pubmed/30714637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22852
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