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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 ...
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 ...