Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.

Vasiliki Sgouropoulou Evangelia Farmaki Theophanis Papadopoulos Vasiliki Tzimouli Polyxeni Pratsidou-Gertsi Maria Trachana

Published in: Rheumatology international (2021)

NGS clarifies the genetic profile of patients with atypical phenotypes and supports therapeutic management decisions. NGS unveiled the frequent involvement of R202Q in the pathogenesis of our FMF patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
copy number
patient reported