The point mutations in these fragments were detected by SSCP.
用单链构象多态性对扩增片段进行点突变检测。
Point mutations, small and large-scale deletions, chromosomal abnormalities.
点突变、小和大规模的缺失、染色体异常。
Moreover, somatic point mutations were associated with specific clinical features and prognosis.
此外，体细胞点突变与特定临床特征及预后相关。
Nowadays, there is no big-sample research about hot point mutations of ATP7B gene in north Chinese with WD;
目前尚缺乏中国北方WD患者ATP7B基因突变热区的大样本研究；
Objective: to study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia.
目的：探索线粒体dna点突变与遗传性共济失调的关系。
Objective to study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia (HA).
目的研究线粒体dna点突变与遗传性共济失调(HA)的关系。
We found that pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations.
我们发现胰腺癌平均含有63个基因的改变，大多数为点突变。
Some patients have suffered relapses due to acquired point mutations in KIT, which prevents Gleevec from binding to the protein.
一些肿瘤复发的病人由于KIT发生了点突变，这阻止了Gleevec结合蛋白激酶。
Conclusion 3bs-pcr, a simple and economical method, could support us with an alternatively valuable assay for screening DNA point mutations from large number samples.
结论3BS - PCR方法操作简单经济，提供了有应用价值的大规模筛检dna点突变的方法。
Objective to investigate the relationships between skin photoaging and point mutations in mitochondrial DNA (mtDNA) control region for replication of dermal fibroblast.
目的探讨皮肤光老化与真皮成纤维细胞线粒体DNA复制控制区点突变的关系。
Genetic damage with DNA alterations leads to point mutations of genes, translocations of genetic material between chromosomes, and gene reduplication with amplification.
伴随DNA改变的基因损伤会导致基因的点突变、染色体间基因移位和扩增性基因复制。
Objective to detect the ABL point mutations in chronic myeloid leukemia (CML) patients treated with imatinib by denaturing high-performance liquid chromatography (DHPLC).
目的应用变性高效液相色谱(DHPLC)检测伊马替尼治疗后慢性髓性白血病(CML)患者ABL激酶区点突变。
Oxidative stress can cause DNA damage, such as DNA strand breaks, point mutations, aberrant DNA cross-linking, and mutations in proto-oncogenes and tumor suppressor genes;
氧化应激可以导致DNA链断裂、DNA位点突变、DNA双链畸变和原癌基因与肿瘤抑制基因突变等形式的DNA损伤；
Past mathematical models of evolution have focused largely on how populations respond to point mutations - random changes in single nucleotides on the DNA chain, or genome.
过去有关进化的数学模型主要用于研究点突变对物种的影响，即DNA链或基因组中的单核苷酸的随机突变。
The molecular mechanism of resistance to the antifolates has been well characterisied and is due to structural changes in the target enzymes resulting from the point mutations of DHFR or DHPS gene.
抗叶酸类抗疟药的抗药性机制已基本搞清，与其作用靶酶二氢叶酸还原酶或二氢蝶酸合成酶基因点突变相关。
Based on the number of restriction enzyme detecting RFLPs, most of mutations were attributed to point mutation.
根据揭示多态性的限制性内切酶的数量可将产生的突变大多归为点突变。
The mutations in patients with factor V deficiency were identified including point mutation, frameshift mutation, deletion and insertion mutation.
本课题在对具有先天性出血倾向的门诊患者进行筛查的过程中，发现了一例重型凝血因子V缺乏症患者。
The mutations in patients with factor V deficiency were identified including point mutation, frameshift mutation, deletion and insertion mutation.
本课题在对具有先天性出血倾向的门诊患者进行筛查的过程中，发现了一例重型凝血因子V缺乏症患者。
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