splice site

About 129 different HHT-related mutations have been reported so far, 79 in ENG and 50 in ALK-1, including missense, nonsense, frameshift, splice-site.

目前发现与HHT有关的不同的突变有129个，其中有79个与ENG基因突变有关，50个与ALK-1基因突变有关。ENG基因或ALK-1基因的突变有错义突变、无义突变、剪接点突变。

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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

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In this paper , grouped weight matrix ( GWM ) method is proposed for splice site recognition.

摘要提出识别剪切位点的分组权重 矩阵 方法.

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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。

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Splice Site Identification Based on Improved Winnow Algorithm

基于改进的Winnow算法的剪接位点识别

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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

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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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Prediction of Alternative Splice Site and Analysis of Sequence Characteristic in Model Organism Genome

模式生物基因组中可变剪接位点的预测及序列特征分析

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Two kinds of band type appeared in exon 8. A g/ t polymorphism was found 32 bp from the splice donor site of intron 8 in six tumors.

但外显子8表现出两种不同带型，该基因存在多态性，6例肿瘤在内含子8距拼接部32bp处存在两种不同碱基，基因型为g/t。

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