Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation
Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (<i>MVK</i>) and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mev...
Main Authors: | Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-04-01
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Series: | Journal of Clinical Medicine |
Subjects: | |
Online Access: | https://www.mdpi.com/2077-0383/10/8/1552 |
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