Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing

A Todorova; B Georgieva; I Kremensky; I Tournev; J Genova; T Tchamova; T Todorov; V Guergueltcheva; V Mihaylova; V Mitev

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Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing

机译：多重连接依赖探针扩增分析和直接测序技术对Duchenne / Becker肌营养不良患者的分子诊断

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《Balkan journal of medical genetics: BJMG》 |2010年第2期|共页
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A Todorova; B Georgieva; I Kremensky; I Tournev; J Genova; T Tchamova; T Todorov; V Guergueltcheva; V Mihaylova; V Mitev;
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中图分类遗传学;
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1. Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing [J] . ChenW.-J., LinQ.-F., ZhangQ.-J., Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2013,第Null期

机译：多重连接依赖探针扩增和Sanger测序相结合对407例中国杜兴氏/贝克尔肌营养不良患者肌营养不良蛋白基因的分子分析
2. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort [J] . Vengalil Seena, Preethish-Kumar Veeramani, Polavarapu Kiran, Journal of Clinical Neurology . 2017,第1期

机译：多重连接依赖探针扩增证实的杜兴肌营养不良和贝克肌营养不良：在一个大队列中的基因型-表型相关性。
3. Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients. [J] . Annette Uwineza, Janvier Hitayezu, Seraphine Murorunkwere, Journal of tropical pediatrics. . 2014,第2期

机译：在卢旺达患者中使用多重结扎依赖性探针扩增对杜兴氏和贝克尔肌营养不良症的遗传诊断。
4. DYE-FREE DETECTION OF MULTIPLE GENE EXPRESSION BY SEQUENCE-TAGGED MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION COUPLED WITH PYROSEQUENCING FOR DIAGNOSIS OF COLORECTAL CANCER [C] . Huang Huan, Qi Zongtai, Deng Lili, The 6'th International Forum on Post-genome Technologies(6'IFPT)（第六届国际后基因组生命科学技术学术论坛） . 2009

机译：测序标记的依赖于多联结的探针扩增与热测序联用的无染料检测多基因表达，用于大肠癌的诊断
5. Parents' perspectives on Duchenne/Becker muscular dystrophy and specific learning disabilities: A grounded theory study. [D] . Webb, Carol Lee. 2002

机译：父母对杜兴/贝克尔肌营养不良症和特定学习障碍的观点：扎根的理论研究。
6. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort [O] . Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, 2017

机译：多重连接依赖探针扩增证实的杜兴肌营养不良和贝克肌营养不良：在一个大队列中的基因型-表型相关性。
7. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort [O] . Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, 2017

机译：Duchenne肌肉营养不良和Becker肌营养不良药物通过多重连接依赖性探针扩增证实：大队列中的基因型 - 表型相关性

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing

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