A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.

Coulter Mackie-MB

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A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.

机译：天冬氨酰氨基葡萄糖苷酶基因中的新型外显子突变会导致外显子跳跃。

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来源
《Journal of inherited metabolic disease》 |1999年第5期|共2页
作者
Coulter Mackie-MB;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词
Aspartylglucosylaminase; Exons; Mutation; Missense; Glycine; Aspartic Acid; 天冬氨酰葡糖脱氨基酶; 外显子; 突变; 误义;

机译：Aspartylglucosylaminase;Exons;Mutation;Missense;Glycine;Aspartic Acid;天冬氨酰葡糖脱氨基酶;外显子;突变;误义;

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专利

1. A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping. [J] . Coulter Mackie-MB Journal of inherited metabolic disease . 1999,第5期

机译：天冬氨酰氨基葡萄糖苷酶基因中的新型外显子突变会导致外显子跳跃。
2. PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping. [J] . Suphapeetiporn K, Kongkam P, Tantivatana J, Japanese journal of clinical oncology. . 2006,第12期

机译：BRRS家族中的PTEN c.511C> T无意义突变会破坏潜在的外显子剪接增强子并导致外显子跳跃。
3. Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping. [J] . Schmidt C, Lahme S, Zerres K, Molecular genetics and metabolism . 2005,第2期

机译：胱氨酸尿症基因SLC7A9中新的剪接位点突变c.605-3C> A的功能分析，导致外显子跳跃。
4. Inactivating Mutation screening of Exon 6 and Exon 10E of FSHR gene in women with Polycystic Ovarian Syndrome in Vellore population [C] . NishuSekar, MadhuraSapre, Vaikhari Kale International Conference on Science, Engineering the Technology . 2018

机译：在瓦雷群中具有多囊卵巢综合征的妇女的外显子6和FSON 10E的突变筛选突变筛选
5. Characterizing the effect of mutations within exon 7 of the murine survival motor neuron gene to model spinal muscular atrophy in the mouse. [D] . Hammond, Suzan Michelle. 2010

机译：表征小鼠存活运动神经元基因外显子7内突变对小鼠脊髓性肌萎缩模型的影响。
6. Mutations in Tau Gene Exon 10 Associated with FTDP-17 Alter the Activity of an Exonic Splicing Enhancer to Interact with Tra2β* [O] . Zhihong Jiang, Hao Tang, Necat Havlioglu, -1

机译：与FTDP-17相关的Tau基因外显子10中的突变改变了外显剪接增强子与Tra2β相互作用的活性*
7. A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. [O] . Gemma L Walmsley, Virginia Arechavala-Gomeza, Marta Fernandez-Fuente, 2010

机译：肌营养不良蛋白缺乏的骑士国王查尔斯猎犬的duchenne肌营养不良基因热点突变适合外显子51跳跃。

A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.

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