Article
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.
American journal of human genetics - 1 Nov 2000
Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian J C, Girodon-Boulandet E, Grateau G, Sarkisian T, Amselem S
Abstract excerpt
Familial Mediterranean fever (FMF) is a recessively inherited disorder predisposing to renal amyloidosis and associated with mutations in MEFV, a gene encoding a protein of unknown function. Differences in clinical expression have been attributed to MEFV-allelic heterogeneity, with the M694V/M694V genotype associated with a high prevalence of renal amyloidosis. However, the variable risk for patients with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.