Associated Papers
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.
Kışla Ekinci RM et al.
Archives of Rheumatology, 2023
Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
Li L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y et al.
Clinical Chemistry, 2020
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME et al.
Journal of Medical Genetics, 2018
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.
Li M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z et al.
Elife, 2015
26202976 (PubMed )
Supplement: elife06322s003.docx
Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis.
Li C et al.
Journal of Dermatological Science, 2014
Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.
Qian W et al.
Indian Journal of Dermatology, 0
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