Arthritis and rheumatism
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Arthritis and rheumatism · Jun 2009
Clinical disease among patients heterozygous for familial Mediterranean fever.
To define the molecular basis of familial Mediterranean fever (FMF) in patients with only 1 mutation in the MEFV gene. ⋯ These findings are highly consistent with the existence of a clinical phenotype among some patients who are heterozygous for FMF and could explain the vertical transmission in some families. A single mutation in the MEFV gene may be much more common than was previously thought and may include up to 25% of patients who are diagnosed as having FMF.