GALC Deletion/Duplication Detection by Droplet Digital PCR for Krabbe Disease Confirmation in a Single Dried Blood Spot Punch

Majumdar R.; Folch N. Vidal; Milosevic D.; Gavrilov D.; Raymond K.; Tortorelli S.; Rinaldo P.; Matern D.; Oglesbee D.

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GALC Deletion/Duplication Detection by Droplet Digital PCR for Krabbe Disease Confirmation in a Single Dried Blood Spot Punch

机译：通过液滴数码PCR在单个干血液斑点冲床中删除数码PCR的GALC删除/复制检测

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《The Journal of molecular diagnostics: JMD》 |2017年第6期|共1页
作者
Majumdar R.; Folch N. Vidal; Milosevic D.; Gavrilov D.; Raymond K.; Tortorelli S.; Rinaldo P.; Matern D.; Oglesbee D.;
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作者单位

Mayo Clin Rochester MN USA;

Mayo Clin Rochester MN USA;

Mayo Clin Rochester MN USA;

Mayo Clin Rochester MN USA;

Mayo Clin Rochester MN USA;

Mayo Clin Rochester MN USA;

Mayo Clin Rochester MN USA;

Mayo Clin Rochester MN USA;

Mayo Clin Rochester MN USA;

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正文语种 eng
中图分类临床医学;
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1. GALC Deletion/Duplication Detection by Droplet Digital PCR for Krabbe Disease Confirmation in a Single Dried Blood Spot Punch [J] . Majumdar R., Folch N. Vidal, Milosevic D., The Journal of molecular diagnostics: JMD . 2017,第6期

机译：通过液滴数码PCR在单个干血液斑点冲床中删除数码PCR的GALC删除/复制检测
2. Screening Newborn Blood Spots for 22q11.2 Deletion Syndrome Using Multiplex Droplet Digital PCR [J] . Carolyn M. Yrigollen, Dalyir Pretto, Dianna Maar, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2015,第1期

机译：使用多重液滴数字PCR筛选22q11.2缺失综合征的新生儿血点
3. Demonstration of a digital microfluidic platform for the high throughput analysis of 12 discrete fluorimetric enzyme assays using a single newborn dried blood spot punch [J] . Singh Raj, Chopra Shaileja, Graham Carrie, Molecular genetics and metabolism . 2018,第2期

机译：使用单一新生儿干血液射击冲头的12个离散荧光酶测定的高通量分析数字微流体平台的演示
4. Dried Blood Spot Analysis - Consistent Spot Homogeneity with Variable Spot Punch Locations [C] . Ritu Arora, William C. Hudson, Ben Yong, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2011

机译：干血斑分析 - 一致的点均匀性，具有可变斑点打孔位置
5. Validation of Droplet Digital PCR (ddPCR) for the detection and absolute quantification of Borrelia DNA in Ixodes ticks [D] . King, Jenny 2015

机译：验证滴滴数字PCR（ddPCR）的检测和绝对定量的I虱中的疏螺旋体DNA
6. Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells [O] . Selena Trifunov, Angela Pyle, Maria Lucia Valentino, -1

机译：mtDNA缺失的克隆扩增：通过数字液滴PCR在单个肌肉细胞中评估的不同疾病模型
7. Screening Newborn Blood Spots for 22q11.2 Deletion Syndrome Using Multiplex Droplet Digital PCR [O] . Dalyir Pretto, Dianna Maar, Carolyn M Yrigollen, 2015

机译：使用多重液滴数码PCR筛选22Q11.2删除综合征的新生儿血斑

GALC Deletion/Duplication Detection by Droplet Digital PCR for Krabbe Disease Confirmation in a Single Dried Blood Spot Punch

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