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Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients

机译：新型基于PCR-RFLP的方法的开发和验证，该方法可检测Leber遗传性视神经病患者的3个主要线粒体突变

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1. Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients [J] . Siobhan Eustace Ryan, Fergus Ryan, David Barton, Eye and Vision . 2015,第1期

机译：新型基于PCR-RFLP的方法的开发和验证，该方法可检测Leber遗传性视神经病变患者的3个主要线粒体突变
2. A real-time ARMS PCR/high-resolution melt curve assay for the detection of the three primary mitochondrial mutations in Leber’s hereditary optic neuropathy [J] . Neylan Derek, O’Dwyer Veronica, Ryan Fergus, Molecular vision . 2016,第2016期

机译：实时ARMS PCR /高分辨率熔解曲线分析法，可检测Leber遗传性视神经病变中的三个主要线粒体突变
3. Genetic Survey of the Primary Mitochondrial Mutations along with Clinical Correlation in suspected Leber Hereditary Optic Neuropathy (LHON) patients from an Indian Cohort [J] . Sundaramurthy Srilekha, Mani Jayaprakash, Dharani Vidhya, Investigative ophthalmology & visual science . 2018,第9期

机译：印度队列疑似雷伯遗传性视神经病变（LHON）患者的临床相关性临床相关性临床关联
4. Increasing Efficiency of ISO 26262 Verification and Validation by Combining Fault Injection and Mutation Testing with Model based Development [C] . Rakesh Rana, Miroslaw Staron, Christian Berger, International Joint Conference on Software Technologies . 2013

机译：通过基于模型的开发结合故障注射和突变测试，提高ISO 26262验证和验证的效率
5. A Review of Leber Hereditary Optic Neuropathy and Stargardt's Disease: Comfort Level of Genetic Counselors in Dealing with Patients with these two Disorders [D] . Pani, Blerta 2011

机译：Leber遗传性视神经病变和Stargardt病的综述：遗传咨询员在应对这两种疾病时的舒适度
6. Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Lebers hereditary optic neuropathy patients [O] . Siobhan Eustace Ryan, Fergus Ryan, David Barton, 2015

机译：新型基于PCR-RFLP的方法的开发和验证该方法可检测Leber遗传性视神经病患者的3个主要线粒体突变
7. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. [O] . Alessandro Achilli, Luisa Iommarini, Anna Olivieri, 2012

机译：Leber遗传性视神经病变中罕见的原发性线粒体DNa突变和可能的协同变异。

Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients

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