HIGHLIGHTS
- who: I Jéru and collaborators from the (UNIVERSITY) have published the Article: OR2-002 - The risk of FMF in MEFV heterozygotes, in the Journal: (JOURNAL)
- what: This is the first statistical demonstration that heterozygosity is not responsible for classical Mendelian FMF, but constitutes a susceptibility factor for clinically-similar complex conditions.
SUMMARY
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led . . .
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