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Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene
Author(s) -
Houten S. M.,
Frenkel J.,
Kuis W.,
Wanders R. J. A.,
PollThe B. T.,
Waterham H. R.
Publication year - 2000
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005687415434
Subject(s) - university hospital , general hospital , medical school , mevalonic acid , medicine , pediatrics , family medicine , chemistry , medical education , gene , biochemistry , biosynthesis