نتایج جستجو برای: mutation detection method
تعداد نتایج: 2333870 فیلتر نتایج به سال:
wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to over 50 years. the primary consequence for most of those with wd is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disea...
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-...
Detection of DNA sequence variation is critical to biomedical applications, including disease genetic identification, diagnosis and treatment, drug discovery and forensic analysis. Here, we describe an arrayed primer extension-based genotyping method (APEX-2) that allows multiplex (640-plex) DNA amplification and detection of single nucleotide polymorphisms (SNPs) and mutations on microarrays v...
background: this study investigated the association between pfcrt, t76 allele and chloroquine resistance in patients with falciparum malaria. molecular assays for point mutations on drugs resistance-related genes are applied tools for monitoring emerging resistance and surveillance malaria control strategies in endemic areas. the mutant genotype at codon 76 of plasmodium falciparum chloroquine ...
Identifying somatic mutations is critical for cancer genome characterization and for prioritizing patient treatment. DNA whole exome sequencing (DNA-WES) is currently the most popular technology; however, this yields low sensitivity in low purity tumors. RNA sequencing (RNA-seq) covers the expressed exome with depth proportional to expression. We hypothesized that integrating DNA-WES and RNA-se...
BACKGROUND Epidermal growth factor receptor (EGFR) mutation status is crucial in treatment selection for non-small cell lung cancer (NSCLC) patients; however, the detection materials' availability remains challenging in clinical practice. In this study, we collected surgical resection tissues, lymph node biopsy, and cytological samples for EGFR mutation testing and investigated the associations...
scid disorder is major failure of the immune system, usually genetic. the aim of this study was on mutations detection of rag1, rag2, and il7rg genes in scid cases. mutation detection was performed by pcr sequencing. our results indicated that 13 mutations were found through cases which include 4 mutations in il7r gene (t661i, i138v, t56a, c57w), 7 mutations in rag1 (w896x, w204r, m324v,...
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