نتایج جستجو برای: single mutation
تعداد نتایج: 1124173 فیلتر نتایج به سال:
We propose an assay which combines the specificity of gap-filling ligation chain reaction (Gap-LCR) and the sensitivity of quantum dot-single molecule spectroscopy (QD-SMS) to detect point mutation from genomic DNA without pre-PCR amplification. Mutation variant-specific ligation products are generated by Gap-LCR and captured by quantum dot to form DNA-QD nanocomplexes that are detected by SMS....
We examined a large consanguineous Druze family with McArdle disease for mutations in the glycogen myophosphorylase (PYGM) gene. All affected subjects were autozygous for a single G to A transition that abolishes the 5' consensus splice site in the first nucleotide of intron 14. The G to A transition is a rare mutation, with only one previous report in a single white subject heterozygous for th...
Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...
Background and Aims: Ficolins are proteins that bind to carbohydrates, act as opsonins and play an important role in innate immunity. Polymorphism in ficolin-3 gene (FCN3) can lead to complement deficiency and increase the risk of some disorders such as diabetes. The aim of this study was to investigate the frequency of FCN3+1637delC as a single nucleotide polymorphism in this gene in healthy a...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید