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M680I/M694V Heterozygous Mutation in Early Onset Familial Mediterranean Fever
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder affecting individuals with biallelic pathogenic mutations in the MEFV gene. The disease is characterized by recurrent attacks of fever and serosal inflammation as manifested by abdominal and chest pain. This case report pre...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elmer Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8425813/ https://www.ncbi.nlm.nih.gov/pubmed/34527104 http://dx.doi.org/10.14740/jmc3747 |