Splicing mutation in MVK is a cause of porokeratosis of Mibelli

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Periodic Fever Syndrome, Autoimmune Disease, Disease Mechanism +10

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Sander M. Houten, Wietse Kuis, Marinus Duran et al. · Nature Genetics · 1999 · 520 citations

Cause Hyperimmunoglobulinaemia D, Periodic Fever Syndrome, Autoimmune Disease +11

Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

Jeroen C.H. van der Hilst, Evelien J. Bodar, Karyl S. Barron et al. · Medicine · 2008 · 397 citations · Full text

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

J W van der Meer · European Journal of Human Genetics · 2001 · 212 citations · Full text

Periodic Fever Syndrome, Autoimmune Disease, Disease Mechanism +12

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome

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