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Article

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.

Human molecular genetics - 1 Dec 2002

Houten Sander M, Frenkel Joost, Rijkers Ger T, Wanders Ronald J A, Kuis Wietse, Waterham Hans R

Abstract excerpt

Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria are autosomal recessive disorders characterized by recurrent episodes of fever and generalized inflammation. Both syndromes are caused by specific mutations in the gene encoding mevalonate kinase (MK), resulting in a depressed enzymatic activity mainly due to reduced protein levels. We studied the effect of temperature on the activity of...

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Source

Identifiers

PMID: 12444096
DOI: 10.1093/hmg/11.25.3115

Genes

MVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.PMID 12444096Read ↗

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