Article

Mutations in the B30.2 and the Central Helical scaffold domains of pyrin differentially affect inflammasome activation

2022-12-06

Abstract excerpt

<title>Abstract</title> <p>Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disorder. FMF is caused by mutations in the <italic>MEFV</italic> gene, encoding pyrin, an inflammasome sensor. The best characterized pathogenic mutations associated with FMF cluster in exon 10. Yet, mutations have been described along the whole <italic>MEFV</italic> coding sequence. Exon 10 encodes the B3...

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Literature Corpus work: aeb829e3-d5d2-575f-8ad8-96dd53c2eb60
DOI: 10.21203/rs.3.rs-2214035/v1

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