Three Japanese patients (Mother and Two Children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern
Author:
Publisher
Allergy, Asthma, and Immunology Association of Thailand
Subject
Immunology,General Medicine,Immunology and Allergy
Cited by 13 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. Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy;European Journal of Internal Medicine;2023-09
2. The unsolved mystery of MEFV variants variable expressivity in Familial Mediterranean Fever;Internal and Emergency Medicine;2022-07-09
3. British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature;Rheumatology;2019-08-05
4. The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity;The Journal of Pediatrics;2019-06
5. Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses;European Journal of Rheumatology;2019-02-20
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