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Article

Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.

Journal of cellular and molecular medicine - 1 Oct 2020

Umar Meenakshi, Megarbane Andre, Shan Jingxuan, Syed Najeeb, Chouery Eliane, Aliyev Elbay, Jithesh Puthen, Temanni Ramzi, Mansour Issam, Chouchane Lotfi, Ismail Chouchane Aouatef

Abstract excerpt

Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease. It is transmitted as autosomal recessive trait with mutations in MEditerranean FeVer (MEFV) gene. Despite a typical clinical expression, many patients have either a single or no mutation in MEFV. The current work is aimed to revisit the genetic landscape of FMF disease using high-coverage whole genome sequencing. In atypical patients...

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Identifiers

PMID: 32853466
DOI: 10.1111/jcmm.15701
PMCID: PMC7576248

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