نتایج جستجو برای: amplified refractory mutation system
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Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification refractory mutation system (ARMS) and ide...
conclusions our data suggested an intermediate prevalence of g1896a mutation among malaysian hepatitis b carriers. the stop codon mutation has a significant association with genotype b and patients with chronic hepatitis b and liver cirrhosis. patients and methods serum samples from 93 patients confirmed as hepatitis b carriers were collected for molecular assay. the whole genome of hbv was amp...
Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...
one of the leading causes of death in the world are cardiovascular diseases, among which coronary artery disease (cad) is the most common one. it occurs as a result of narrowing of the arteries which supply blood to the heart due to a theroma plaque formation. this kind of heart disease can be considered as a multifactorial one as genetic and environmental factors are involved in its incidence....
EGFR is frequently mutated and amplified in lung adenocarcinomas sensitive to EGFR inhibitors gefitinib and erlotinib. A secondary mutation, T790M, has been associated with acquired resistance but has not been shown to be sufficient to render EGFR mutant/amplified lung cancers resistant to EGFR inhibitors. We created a model for studying acquired resistance to gefitinib by prolonged exposure of...
A new method of genetic analysis has been devised. The method, amplification refractory mutation system (ARMS), has been used to genotype the J3.11 MspI restriction fragment length polymorphism (RFLP) closely linked to cystic fibrosis (CF). The DNA sequence for both alleles of this dimorphism has been used to design ARMS primers. These allow genotyping of DNA isolated from blood, Guthrie cards,...
background: thrombophilia is a main predisposition to thrombosis due to a procoagulant state. several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. these thrombophilic mutations are methylenetetrahydrofolate reductase (mthfr, c677t, and a1298c), factor v leiden (g1691a), prothrombin gene mutation (factor ii, g20210a), and plasminogen...
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