title: Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
authors.affiliation: Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.
authors.forename: S M
authors.initials: SM
authors.lastname: Houten
authors.forename: J
authors.initials: J
authors.lastname: Frenkel
authors.forename: W
authors.initials: W
authors.lastname: Kuis
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: H R
authors.initials: HR
authors.lastname: Waterham
mesh_terms: D000138:Acidosis / Q000150:complications / Q000201:enzymology; D000483:Alleles; D010505:Familial Mediterranean Fever / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D007072:Immunoglobulin D / Q000097:blood*; D008798:Mevalonic Acid / Q000652:urine*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation
chemical_list: D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid