Associated Papers
Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.
Trizuljak J et al.
Platelets, 2024
39212265 (PubMed )
Supplement: supplement_1.pdf
Etiology of neonatal cholestasis after emerging molecular diagnostics.
Wang H et al.
Translational Pediatrics, 2022
35378957 (PubMed )
Supplement: tp-11-03-359-supplementary.pdf
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
A woman with recurrent "infections" since birth--a new mevalonate kinase mutation.
Farber CM et al.
Acta Clinica Belgica, 0
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