Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study.
Amal R MansourAyman El-ShayebNihal El HabachiMohamad A KhodairDoaa ElwazzanNermeen AbdeenMarwa SaidRiham EbaidNoha ElShahawyAmr SeifNadia ZakiPublished in: International journal of inflammation (2019)
Unlike all previous publications, E148Q allele was found to be the most frequent in the studied patients. Moreover, this allele was associated with increased Amyloid A. 793 patients were free of the 12 studied Mediterranean mutations, which implies the necessity to perform future sequencing studies to reveal other mutations.