نتایج جستجو برای: mutation detection
تعداد نتایج: 844642 فیلتر نتایج به سال:
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
Background and Purpose: β-thalassaemia is the most frequent inherited disorder in the world, especially in Iran and Mazandaran Province. It is caused by mulation in β-globin gene on chromosome 11 with more than 150 different mulations causing β-thalassaemia, has been identified in the β-globin gene to date. Hydroxyurea, is one of the drugs used in Thalassemia patient’s treatment, however, it ...
Figure 1: Rare Event Detection includes both Rare Mutation Detection (RMD) and Rare Species Detection (RSD). RMD and RSD can be classified according to their assay components. An RMD assay is comprised of a single primer set plus two competitive probes. RSD utilizes either a single assay to detect a rare species per unit volume (Case 1) or two independent, noncompetitive assays to detect a rare...
We have developed a simple and flexible mutation detection technology for the discovery and mapping of both known and unknown mutations. This technology is based on a new mismatch-specific DNA endonuclease from celery, Surveyor nuclease, which is a member of the CEL nuclease family of plant DNA endonucleases. Surveyor nuclease cleaves with high specificity at the 3' side of any mismatch site in...
Members the DNA Methyltransferases (DNMT) gene family have been shown to play fundamental roles in regulating embryonic growth and development from embryonic fertilization to postnatal life; through regulating the establishment and/or maintenance of specific epigenetic marks. The present study was conducted to identify potential reported mutations within the exon 33 of DNMT-1, intron 4 of DNMT-...
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