Evaluation of a Single-tube, Long-read, Two-mode PCR Technology that Reports the Categorical Range of DMPK CTG Expansions and Resolves up to 2000 Repeats in Myotonic Dystrophy Type 1

Holl B.; Cooley J.; Bend E.; Wisotsky J.; Lee J.

首页> 外文期刊>The Journal of molecular diagnostics: JMD >Evaluation of a Single-tube, Long-read, Two-mode PCR Technology that Reports the Categorical Range of DMPK CTG Expansions and Resolves up to 2000 Repeats in Myotonic Dystrophy Type 1

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Evaluation of a Single-tube, Long-read, Two-mode PCR Technology that Reports the Categorical Range of DMPK CTG Expansions and Resolves up to 2000 Repeats in Myotonic Dystrophy Type 1

机译：评估单管，长读，两模PCR技术，报告DMPK CTG扩展的分类范围，并在肌营养不良型1型中达到2000次重复

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来源
《The Journal of molecular diagnostics: JMD》 |2018年第6期|共1页
作者
Holl B.; Cooley J.; Bend E.; Wisotsky J.; Lee J.;
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作者单位

Asuragen Austin TX USA;

Greenwood Genet Ctr Greenwood SC 29646 USA;

Greenwood Genet Ctr Greenwood SC 29646 USA;

Asuragen Austin TX USA;

Greenwood Genet Ctr Greenwood SC 29646 USA;

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正文语种 eng
中图分类临床医学;
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1. Evaluation of a Single-tube, Long-read, Two-mode PCR Technology that Reports the Categorical Range of DMPK CTG Expansions and Resolves up to 2000 Repeats in Myotonic Dystrophy Type 1 [J] . Holl B., Cooley J., Bend E., The Journal of molecular diagnostics: JMD . 2018,第6期

机译：评估单管，长读，两模PCR技术，报告DMPK CTG扩展的分类范围，并在肌营养不良型1型中达到2000次重复
2. Single-Tube Dodecaplex PCR Panel of Polymorphic Microsatellite Markers Closely Linked to the DMPK CTG Repeat for Preimplantation Genetic Diagnosis of Myotonic Dystrophy Type 1 [J] . Lian Mulias, Zhao Mingjue, Lee Caroline G., Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2017,第6期

机译：单管Dodecaplex PCR面板的多晶型微卫星标记与DMPK CTG重复相关，用于肌肌营养不良型的肌肌营养不良诊断1型
3. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. [J] . Salvatori S, Fanin M, Trevisan CP, Neurological sciences . 2005,第4期

机译：DMPK的表达降低：与1型强直性肌营养不良的CTG重复扩增和纤维类型组成相关。
4. Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1 [O] . Jacob N. Miller, Ellen van der Plas, Mark Hamilton, 2020

机译：在肌肌营养不良型DMPK CTG膨胀保护功能中的变体重复1型1
5. Novel Heat Pulse Extension-PCR–Based Method for Detection of Large CTG-Repeat Expansions in Myotonic Dystrophy Type 1 [O] . Orpana Arto K., Ho Tho H., Alagrund Katariina, 2013

机译：基于新型热脉冲扩展PCR的方法，用于检测1型强直性营养不良中的大型CTG重复扩增。

Evaluation of a Single-tube, Long-read, Two-mode PCR Technology that Reports the Categorical Range of DMPK CTG Expansions and Resolves up to 2000 Repeats in Myotonic Dystrophy Type 1

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