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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：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

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Heather B Steele-Stallard; Polona Le Quesne Stabej; Eva Lenassi; Linda M Luxon; Mireille Claustres; Anne-Francoise Roux; Andrew R Webster; Maria Bitner-Glindzicz;
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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. Deep intronic 'mutations' cause hemophilia A: Application of next generation sequencing in patients without detectable mutation in F8 cDNA [J] . PezeshkpoorB., ZimmerN., MarquardtN., Journal of thrombosis and haemostasis: JTH . 2013,第9期

机译：深度内含子“突变”导致血友病A：下一代测序在未检测到F8 cDNA突变的患者中的应用
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. Utility of ICE COLD-PCR Coupled to Sanger Sequencing or Next Generation Sequencing for Increased Mutation Detection Sensitivity During Patient Monitoring from Circulating Free DNA [C] . Katherine Richardson, Filip Janku, Ben Legendre, Molecular Medicine TRI-CON. . 2014

机译：冰冷PCR的效用偶联至Sanger测序或下一代测序，用于增加患者监测患者循环自由DNA期间的突变检测敏感性
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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