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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 ...
CCR2 Polymorphism in Chronic Renal Failure Patients Requiring Long-Term Hemodialysis
(JAPAN SOC INTERNAL MEDICINE, 2011)
Objective A number of chemokines and chemokine receptors are produced by intrinsic renal cells as well as by infiltrating cells during renal inflammation. The CCR2 chemokine receptor mediates leukocyte chemoattraction in ...
Heterozygous Deletion of Exon 8 in WFS1 Gene in Two Wolfram Syndrome Probands with Hearing Loss: Case Report
(ORTADOGU AD PRES & PUBL CO, 2011)
Point mutations in the Wolfram syndrome 1 gene (WFS1) are attributed the autosomal dominant and/or recessive mild type sensorineural hearing loss in first degree relatives. Total genomic DNA was isolated from peripheral ...