Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 367-370

  Houten, S M ^a   Frenkel, J ^b   Kuis, W ^b   Wanders, R J A ^a   Poll The, B T ^b   Waterham, H R ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Univ Children's Hosp Het W   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN D; MEVALONIC ACID; PHOSPHOTRANSFERASE;

ACIDURIA; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEVER; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HYPERIMMUNOGLOBULINEMIA;

ACIDOSIS; ALLELES; FAMILIAL MEDITERRANEAN FEVER; GENE FREQUENCY; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN D; MEVALONIC ACID; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POINT MUTATION;

EID: 0034080217     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005687415434     Document Type: Conference Paper

References (10)

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2. Drenth JPH, Cuisset L, Grateau G, et al (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nature Genetics 22: 178-181.
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9. Poll-The BT, Frenkel J, Houten SM, et al (2000) Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome. J Inherit Metab Dis 23: 363-366.
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