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A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes

Pyrin, a protein encoded by the MEFV gene, plays a vital role in innate immunity by sensing modifications in Rho GTPase and assembling the pyrin inflammasome, which in turn activates downstream immune responses. We identified a novel and de novo MEFV p.E583A dominant variant in 3 patients from the s...

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Detalles Bibliográficos
Autores principales:	Wang, Qintao, Jin, Taijie, Jian, Shan, Han, Xu, Song, Hongmei, Zhou, Qing, Yu, Xiaomin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619432/ https://www.ncbi.nlm.nih.gov/pubmed/37676738 http://dx.doi.org/10.1172/jci.insight.172975

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