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Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resulting in a decreased activity of the encoded enzyme me...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446354/ https://www.ncbi.nlm.nih.gov/pubmed/34539662 http://dx.doi.org/10.3389/fimmu.2021.724991 |