Ontology highlight
ABSTRACT:
SUBMITTER: Ong FS
PROVIDER: S-EPMC3570680 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Ong F S FS Vakil H H Xue Y Y Kuo J Z JZ Shah K H KH Lee R B RB Bernstein K E KE Rimoin D L DL Getzug T T Das K K Deignan J L JL Rotter J I JI Grody W W WW
Clinical genetics 20121107 1
Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding fever (MEFV) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause FMF. To correlate specific genotypes with adverse phenotypes of affected populations residing in the Western United States, a retrospe ...[more]