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Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (MVK) and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mevalonic aciduria, an...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:J Clin Med
Hauptverfasser: Boursier, Guilaine, Rittore, Cécile, Milhavet, Florian, Cuisset, Laurence, Touitou, Isabelle
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2021
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8067830/
https://ncbi.nlm.nih.gov/pubmed/33917151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm10081552
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