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Article

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

European journal of human genetics : EJHG - 1 Apr 2001

Cuisset L, Drenth J P, Simon A, Vincent M F, van der Velde Visser S, van der Meer J W, Grateau G, Delpech M

Abstract excerpt

Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) is an autosomal recessive inflammatory disorder characterised by recurrent episode of fever associated with lymphadenopathy, abdominal distress, joint involvement and skin lesions. We recently demonstrated that mutations in the mevalonate kinase gene (MVK) are associated with HIDS. Direct DNA sequencing was done to screen the entire coding region of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11313769
DOI: 10.1038/sj.ejhg.5200614

Genes

MVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.PMID 11313769Read ↗

Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.Semantic proximity Read ↗

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