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Article

Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean fever

6 Feb 2021

Abstract excerpt

OBJECTIVES: FMF results from mutations in the Mediterranean fever (MEFV) gene. The p. E148Q protein alternation is one of the most frequent in the MEFV gene, yet the exact E148Q genotype-phenotype correlation remains unclear. The aim of this study was to examine clinical significance of heterozygous E148Q variant in a paediatric FMF cohort. METHODS: We compared the clinical manifestations and disease severity...

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PMID: 33560333
DOI: 10.1093/rheumatology/keab128

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