Associated Papers
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
Houten SM et al.
Journal of Inherited Metabolic Disease, 2000
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM et al.
Nature Genetics, 1999
Select a paper to view details