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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
MVK
gene.
Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007 Jun;40(9-10):575-84. Epub 2007 Mar 31. Review.
PubMed citation
Entrez
Gene
Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006 Apr 26;1:13. Review.
PubMed citation
Mandey SH, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006 Aug;27(8):796-802.
PubMed citation
OMIM:
MEVALONATE
KINASE
Reviewed: April 2011
Published: May 20, 2013
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