Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

Florian Hoffmann,Peter Lohse,Silvia Stojanov,Y. S. Shin,Ellen D. Renner,Anja Kéry,Stephanie Zellerer,Bernd H. Belohradsky

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

2005

Florian Hoffmann
Peter Lohse
Silvia Stojanov
Y. S. Shin
Ellen D. Renner
Anja Kéry
Stephanie Zellerer
Bernd H. Belohradsky

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

Keywords:

Genetics
Biology
Enzyme
Autoimmune disease
Tumor necrosis factor alpha
Gene
Mutation
Penetrance
Cancer research
Systemic disease
Mevalonate kinase
Hereditary Periodic Fever Syndromes
gene mutation

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