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Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis
(SPRINGER LONDON LTD, 2017)
Primary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence ...
Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey
(SPRINGER/PLENUM PUBLISHERS, 2016)
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have ...
The CYP4502D6*4 and*6 alleles are the molecular genetic markers for drug response: implications in colchicine non-responder FMF patients
(SPRINGER FRANCE, 2016)
The cytochrome P450 2D6 (CYP2D6) is a cytochrome P450 enzyme involved in the oxidative biotransformation of the xenobiotics, carcinogens and various clinically important drugs. Patients are evaluated in three sub-groups ...
Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers
(SPRINGER, 2011)
The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in ...
Association between ABCB1 (MDR1) Gene 3435 C > T Polymorphism and Colchicine Unresponsiveness of FMF Patients
(TAYLOR & FRANCIS LTD, 2011)
The multidrug resistance gene-1 (MDR1, adenosine triphosphate-binding cassette transporter: ABCB1, P-glycoprotein) encodes membrane proteins that play a crucial role in protecting cells from xenobiotics, chemicals, and ...