Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing meval...
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
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Author / Creator
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 and Waterham, H R
Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
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 n...
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Full title
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
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Record Identifier
TN_cdi_proquest_miscellaneous_77076924
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_77076924
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5200595
