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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Detalles Bibliográficos
Autores principales: Boursier, Guilaine, Rittore, Cécile, Milhavet, Florian, Cuisset, Laurence, Touitou, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067830/
https://www.ncbi.nlm.nih.gov/pubmed/33917151
http://dx.doi.org/10.3390/jcm10081552

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067830/
https://www.ncbi.nlm.nih.gov/pubmed/33917151
http://dx.doi.org/10.3390/jcm10081552

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