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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...
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| Publicado no: | J Clin Med |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | 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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