Pyrin-associated autoinflammatory disease with p.Thr577Ala MEFV somatic mutation
Author:
Publisher
Elsevier BV
Subject
Internal Medicine
Reference13 articles.
1. Aksentijevich I. the pyrin inflammasome in health and disease;Schnappauf;Front Immunol,2019
2. A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever;Moghaddas;Ann Rheum Dis,2017
3. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease;Stoffels;Ann Rheum Dis,2014
4. Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: report on two Northern European Caucasians relatives in France;Elhani;Joint Bone Spine,2020
5. The changing concepts regarding the mediterranean fever gene: toward a spectrum of pyrin-associated autoinflammatory diseases with variable heredity;Boursier;J Pediatr,2019
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Maladies auto-inflammatoires et les déficits immunitaires;Perfectionnement en Pédiatrie;2024-06
2. Mosaïcisme génétique dans les maladies auto-inflammatoires : revue de la littérature;La Revue de Médecine Interne;2024-05
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