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Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF

BACKGROUND: Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type. MET...

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Detalles Bibliográficos
Autores principales: Moradian, Mike M., Babikyan, Davit, Banoian, Dion, Hayrapetyan, Hasmik, Manvelyan, Hakob, Avanesian, Nareh, Sarkisian, Tamara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702578/
https://www.ncbi.nlm.nih.gov/pubmed/29178647
http://dx.doi.org/10.1002/mgg3.336