Article
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
Rheumatology (Oxford, England) - 1 Feb 2017
Rowczenio Dorota M, Iancu Daniela S, Trojer Hadija, Gilbertson Janet A, Gillmore Julian D, Wechalekar Ashutosh D, Tekman Mehmet, Stanescu Horia C, Kleta Robert, Lane Thirusha, Hawkins Philip N, Lachmann Helen J
Abstract excerpt
OBJECTIVE: This study was undertaken to characterize the phenotype and response to treatment in patients with autosomal dominant FMF caused by MEFV p.M694del mutation and to use haplotype reconstruction to investigate the possibility of common ancestry. METHODS: MEFV gene was analysed in 3500 subjects with suspected FMF referred to a single UK centre between 2002 and 2014. Patients with p.M694del underwent...
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