Article
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
European journal of human genetics : EJHG - 1 Apr 2001
Houten S M, Koster J, Romeijn G J, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley R I, Kuis W, Poll-The B T, Gibson K M, Wanders R J, Waterham H R
Abstract excerpt
Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of the enzyme mevalonate kinase (MK) resulting from mutations in the encoding MVK gene. Thus far, disease-causing mutations only could be detected by analysis of MVK cDNA. We now describe the genomic organization of the human MVK gene. It is...
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