Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

Sander M. Houten, Janet Koster, Gerrit Jan Romeijn, Joost Frenkel, Maja Di Rocco, Ubaldo Caruso, Pierre Landrieu, Richard I. Kelley, Wietse Kuis, Bwee Tien Poll-The, K. Michael Gibson, Ronald J A Wanders, Hans R. Waterham

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Medicine & Life Sciences