The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever

Giaglis S, Papadopoulos V, Kambas K, et al.

J Mol Med · 2002

Grade Bcohortn=220
PubMed ↗

Key Findings

  • ●M694V homozygosity most severe: highest amyloidosis risk
  • ●V726A-E148Q complex allele also severe
  • ●E148Q is not a benign polymorphism

Referenced in (1 disease)

Familial Mediterranean Fever
ID: pmid-11938447PMID: 11938447