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
S M
SM
Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.
Frenkel
J
J
Kuis
W
W
Wanders
R J
RJ
Poll-The
B T
BT
Waterham
H R
HR
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
D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid