The unsolved mystery of MEFV variants variable expressivity in Familial Mediterranean Fever
Author:
Funder
Regione Puglia
Publisher
Springer Science and Business Media LLC
Subject
Emergency Medicine,Internal Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11739-022-03027-4.pdf
Reference39 articles.
1. Portincasa P, Scaccianoce G, Palasciano G (2013) Familial Mediterranean fever: a fascinating model of inherited autoinflammatory disorder. Eur J Clin Invest 43(12):1314–1327. https://doi.org/10.1111/eci.12170
2. Fukushima Y, Obara K, Hirata H, Sugiyama K, Fukuda T, Takabe K (2013) 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. Asian Pac J Allergy Immunol 31(4):325–329. https://doi.org/10.12932/AP0244.31.4.2013
3. Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW (2014) MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease. Ann Rheum Dis 73(2):455–461. https://doi.org/10.1136/annrheumdis-2012-202580
4. Procopio V, Manti S, Bianco G, Conti G, Romeo A, Maimone F, Arrigo T, Cutrupi MC, Salpietro C, Cuppari C (2018) Genotype-phenotype correlation in FMF patients: a “non classic” recessive autosomal or “atypical” dominant autosomal inheritance? Gene 641:279–286. https://doi.org/10.1016/j.gene.2017.10.068
5. Stella A, Cortellessa F, Scaccianoce G, Pivetta B, Settimo E, Portincasa P (2019) Familial Mediterranean fever: breaking all the (genetic) rules. Rheumatology 58(3):463–467. https://doi.org/10.1093/rheumatology/key328
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. Genetic and Clinical Manifestations of Familial Mediterranean Fever in Children from the Central North of Iran;Iranian Journal of Pediatrics;2024-06-08
2. Unraveling the genome: Familial Mediterranean fever;Journal of the American Association of Nurse Practitioners;2024-01
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3