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Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
BACKGROUND: In the isoprenoid biosynthesis pathway, mevalonate is phosphorylated in 2 subsequent enzyme steps by MVK and PMVK to generate mevalonate pyrophosphate that is further metabolized to produce sterol and nonsterol isoprenoids. Biallelic pathogenic variants in MVK result in the autoinflammat...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mosby
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10549927/ https://www.ncbi.nlm.nih.gov/pubmed/37364720 http://dx.doi.org/10.1016/j.jaci.2023.06.013 |