Now showing items 1-10 of 28
E148Q is a Disease-Causing Mefv Mutation: A Phenotypic Evaluation in Patients With Familial Mediterranean Fever
(Bmj Publishing Group, 2005)
Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as ...
Kaposi Sarcoma In A Paediatric Renal Transplant Recipient
(Oxford Univ Press United Kingdom, 1996)
Mefv Gene Mutations In Familial Mediterranean Fever Phenotype Ii Patients With Renal Amyloidosis In Childhood: A Retrospective Clinicopathological And Molecular Study
(Oxford Univ Press, 2002)
Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. ...
C Reactive Protein: Protecting from Lupus in Familial Mediterranean Fever
(B M J Publishing Group, 2005)
Decreased Prevalence Of Atopy In Paediatric Patients With Familial Mediterranean Fever
(B M J Publishing Group, 2004)
Background: A number of inflammatory diseases, including familial Mediterranean fever (FMF), have been shown to be driven by a strongly dominated Th1 response, whereas the pathogenesis of atopic diseases is associated with ...
Mutation Analysis Of The Entire Pkd1 Gene: Genetic And Diagnostic Implications
(Cell Press, 2001)
Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing ...