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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...

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Detalles Bibliográficos
Autores principales: Politiek, Frouwkje A., Waterham, Hans R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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