Πλοήγηση ανά Θέμα "Pyrin"

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Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosage

Karamanakos A., Tektonidou M., Vougiouka O., Gerodimos C., Katsiari C., Pikazis D., Settas L., Tsitsami E., Speletas M., Sfikakis P., Germenis A., Laskari K. (2022)

Objective: To assess the possible impact conferred by co-existing variants in MEditerranean FeVer (MEFV) and other genes on systemic autoinflammatory disease (SAID) phenotype. Methods: Consecutive patients (n = 42) who ...