1、

Subunit gene polymorphisms of neural nicotinic receptor alpha 7 in patients with Alzheimer disease: A new GTG tribasic insertion mutation

阿尔茨海默病患者神经型尼古丁受体α7亚单位基因多态性:发现一个新的GTG三碱基插入突变

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2、

All of them have been characterized to represent DNA alterations by sequencing, including 8 point mutations ( 6 missence, 1 silent mutation and 1 in intron) and a 1 base pair insertion ( introducing a stop codon downstream).

包括8个点突变(6个错义突变,1个静息突变和1个内含子突变)和1个碱基对插入突变(在下游产生终止信号)。

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3、

There are multiple molecular mechanisms that can cause genetic disorders such as point mutations, splicing site mutation, insertion/ deletion mutations, gene duplication, complex rearrangements and gene copy number abnormalities.

引起遗传性疾病的分子机制有多种,常见的有点突变、小片段插入/缺失突变、拼接位点突变、外显子缺失/重复突变、基因重复和复杂重排及基因拷贝数异常等。

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4、

Case had 1 base pair insertion TT → TAT in 85 codon and 1 base pair deletion GCA → GA, which may result in nonsense mutation.

1例85密码子第2、3碱基之间插入A,同时86密码子第2碱基缺失,即GCA→GA导致无义突变。

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5、

The study on the cellular and molecular mechanism of the citrus mutated characteristics is particularly introduced. The research on citrus bud mutation is focusing on retrotransposon insertion, DNA methylation and the difference of gene structure and expression.

阐述了部分柑橘芽变性状形成的细胞学机理和分子机理,指出目前对芽变的研究主要集中在反转录转座子的插入、DNA甲基化、基因结构和表达差异等方面。

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6、

Further analysis revealed that the shortened protein of the two bccp isoforms is arisen from a frame-shift mutation which is caused by an adenine insertion between intron 3 and intron 4 in the gene.

深入分析后发现导致bccp2、bccp3编码蛋白长度缩短的根源在于其内含子3与4之间存在一个由碱基A插入造成的移码突变。

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7、

There was a wide spectrum of mutation type including frame shift, nonsense, splice site mutation, in frame insertion or deletion and missense mutations.

突变类型包括移码突变、无义突变、剪接异常、框架内插入或缺失以及错义突变。

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