نتایج جستجو برای: dhplc
تعداد نتایج: 390 فیلتر نتایج به سال:
Defects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de novo mutations, and associated mRNA instability. Using denaturing high-performance liquid chromatography (DHPLC)-based mutation detection, a mutation in the splice acceptor of ...
Donkey flesh is a popular food in China. To ensure the quality of donkey products plays a vital role in protecting the interests of consumers. Pork and horse are potential in donkey flesh food because of their easier availability at cheaper prices. In present study, PCR-RFLP-DHPLC technology was established for distinguishing the pork, horseflesh and donkey flesh in donkey flesh food. The assay...
BACKGROUND Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES BHDS may be caused by a germline deletion which cannot be detected by a conventional genetic appr...
In tro duc tion: Gil be rt’s syndro me is the mo st com mon he re di ta ry di sor der of bi li ru bin me ta bo li sm. The cau sa ti ve mu ta tion in Cau ca sia ns is al mo st exclu si ve ly a (TA) di nuc leo ti de in ser tion in the UG T1A1 pro mo ter. Aff ec ted in di vi dua ls are ho mo zygous for the va ria nt pro mo ter and ha ve 7 TA re peats in stead of 6. Pro mo te rs wi th 5 and 8 TA re...
Various 1,6- and 1,8-naphthalenophanes were synthesized by using the Photo-Dehydro-Diels-Alder (PDDA) reaction of bis-ynones. These compounds are easily accessible from ω-(3-iodophenyl)carboxylic acids in three steps. The obtained naphthalenophanes are axially chiral and the activation barrier for the atropisomerization could be determined in some cases by means of dynamic NMR (DNMR) and/or dyn...
BACKGROUND Recently, it has become evident that RNA editing-related changes are important in the modulation of neuronal information processing. Alternatively edited transcripts, when meagerly present, are hard to detect. Significant functional consequences may result, however, from small differences in editing efficiency. Moreover, it is difficult to evaluate the ratio of edited transcripts. Th...
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