Associated Papers
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
33917151 (PubMed )
Supplement: jcm-10-01552-s001.zip › TableS1_Distribution-variants_Revised.xlsx › Feuil2
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
De Benedetti F et al.
The New England Journal of Medicine, 2018
29768139 (PubMed )
Supplement: nejmoa1706314_appendix.pdf
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Browne C et al.
Annals of Human Genetics, 2015
26420133 (PubMed )
Supplement: supplement_1.zip › Supplementary_Table_S1.xlsx › Sheet1
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
Tahara M et al.
Modern Rheumatology, 2011
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