Article
TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2018
Blaschek Astrid, V Kries Rüdiger, Lohse Peter, Huss Kristina, Vill Katharina, Belohradsky Bernd H, Heinen Florian, Müller-Felber Wolfgang, Kümpfel Tania
Abstract excerpt
To investigate frequency and phenotype of TNFRSF1A and MEFV mutations in childhood-onset multiple sclerosis (MS). Twenty-nine clinically well characterized patients were investigated for mutations in exons 2, 3, 4, and 6 of the TNFRSF1A gene and in exons 2, 3, 9, 10 of the MEFV gene. Standardized morbidity ratio (SMR) was used to assess whether the number of observed mutations was higher than expected. Eleven out...
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