Article
Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.
Annals of the rheumatic diseases - 1 Sept 2006
Tchernitchko D O, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S
Abstract excerpt
BACKGROUND: Familial Mediterranean fever (FMF) is the most frequent of the recurrent inherited fevers. This autosomal recessive disorder is characterised by periodic episodes of fever and serositis that commonly affect the people of Arab, Armenian, Sephardic Jewish and Turkish origin. Most of the described MEFV gene anomalies responsible for the disease are missense mutations. In the absence of any functional...
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