splice mutation

An acceptor splice site mutation responsible for complete androgen insensitivity syndrome

雄激素受体基因剪接受点突变G~（3346）→T引起一例完全型雄激素不敏感综合征

The cDNA sequencing was performed to analyze the change of FV coding sequence by splice site mutation.

通过cDNA测序分析剪切位点突变引起编码序列的变化。

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene

婴儿高胰岛素血症可能与SCHAD基因的一处新的剪切位点突变有关

A splice mutation were identified in interface of exon 5 and intron 5 ( 1875+ G? A).

通过对ALD基因研究发现一例患者ALD基因外显子5内含子5交界处发生了1875+G→A。

We report the identification of a splice donor mutation in a novel gene, which is the mouse ortholog of a newly discovered telomeric regulator.

我们报告了一个新基因左拼接剪接变异的证据，这个新基因是一个新发现的鼠同源基因端粒调节体。

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。

Objectives: To examine the frequency of exon 15 missense mutation ( D442G) and intron 14 splice defect ( I14A) in cholesteryl ester transfer protein gene in Chinese atherosclerotic subjects.

目的：检测中国人群动脉粥样硬化（AS）患者和正常人的胆固醇酯转运蛋白（CETP）基因15外显子D442G突变和14内含子I14A突变。