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Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

机译：在Sanger测序中，筛查重复，缺失和常见的内含子突变可检测出USH2A单等位基因突变患者中35％的第二突变。

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International audience

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Steele-Stallard, Heather; Le Quesne Stabej, Polona; Lenassi, Eva; Luxon, Linda; Claustres, Mireille; Roux, Anne-Francoise; Webster, Andrew; Bitner-Glindzicz, Maria;
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1. Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing [J] . Heather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Orphanet journal of rare diseases . 2013,第2期

机译：在Sanger测序中筛查重复，缺失和常见的内含子突变可检测出USH2A单等位基因突变患者中35％的第二突变
2. Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5 ' mutation hot spot of the dystrophin gene [J] . Gualandi F., Rimessi P., Trabanelli C., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2006,第Null期

机译：肌营养不良蛋白基因5'突变热点缺失/重复的DMD / BMD患者的内含子断点定义和转录分析
3. Carrier Screening for Cystic Fibrosis among IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations. [J] . Hallam Stephanie, Breton Benjamin, Faulkner Nicole, Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society . 2013,第3Suppla期

机译：利用下一代DNA测序对IVF患者进行囊性纤维化的载体筛查可检测到常见，罕见和其他无法检测到的突变。
4. A Biologically Meaningful Extension of the Efficient Method for Deleterious Mutations Prediction in RNAs: Insertions and Deletions in Addition to Substitution Mutations [C] . Alexander Churkin, Danny Barash International symposium on bioinformatics research and applications . 2018

机译：在RNA中有害突变预测的有效方法的生物学意义上的扩展：插入和删除替代突变。
5. Computational assessment of somatic missense mutations detected in tumor sequencing studies with cancer-specific high-throughput annotation of somatic mutations (CHASM). [D] . Carter, Hannah. 2012

机译：具有肿瘤特异性高通量体细胞突变（CHASM）的肿瘤测序研究中检测到的体细胞错义突变的计算评估。
6. Screening for duplications deletions and a common intronic mutation detects 35 of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing [O] . Heather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, 2013

机译：筛选重复缺失和常见内含子突变可在Sanger测序中检测出USH2A单等位基因突变患者中35％的第二突变
7. Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. [O] . Steele-Stallard, Heather, Le Quesne Stabej, Polona, Lenassi, Eva, 2013

机译：在Sanger测序中，筛查重复，缺失和常见的内含子突变可检测出USH2A单等位基因突变患者中35％的第二突变。

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

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