Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV
Author:
Affiliation:
1. Department of Pediatrics School of Medicine Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan
Publisher
Wiley
Subject
Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.14696
Reference28 articles.
1. Familial Mediterranean fever
2. Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review
3. The Pyrin Inflammasome in Health and Disease
4. Criteria for the diagnosis of familial mediterranean fever
5. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
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1. Severity scores, damage indices, and the concept of the colchicine-resistant patient in familial Mediterranean fever;Modern Rheumatology;2024-08-09
2. Clinical Associations of E148Q Heterozygosity;JCR: Journal of Clinical Rheumatology;2024-08-02
3. Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis;Rheumatology;2023-07-22
4. IL-18 in Autoinflammatory Diseases: Focus on Adult Onset Still Disease and Macrophages Activation Syndrome;International Journal of Molecular Sciences;2023-07-05
5. IgA Vasculitis in Japanese Patients Harboring MEFV Mutations: A Case Report and Review of the Literature;Cureus;2023-02-11
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