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
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)
Validation history
Full log →No validation events recorded yet. Source will be checked on the next kipine-source-validator run.
ID: pmid-11938447PMID: 11938447