Characteristics of Pompe disease patients with and without the c.-32-13 T > G (IVS1) variant: Data from the Pompe Registry

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Characteristics of Pompe disease patients with and without the c.-32-13 T > G (IVS1) variant: Data from the Pompe Registry

机译：具有和不含C.-32-13 T> G（IVS1）变体的POPPE疾病患者的特征：POPPE注册处的数据

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《Molecular genetics and metabolism》 |2020年第2期|共1页
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中图分类内分泌腺疾病及代谢病;
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1. Characteristics of Pompe disease patients with and without the c.-32-13 T > G (IVS1) variant: Data from the Pompe Registry [J] . Molecular genetics and metabolism . 2020,第2期

机译：具有和不含C.-32-13 T> G（IVS1）变体的POPPE疾病患者的特征：POPPE注册处的数据
2. Sequence variants and genotypes among 898 patients with Pompe disease: data from the Pompe Registry [J] . Kishnani Priya S., Abbott Mary Alice, Chien Yin-Hsiu, Molecular genetics and metabolism . 2017,第1a2期

机译：898例Pompe疾病患者中的序列变体和基因型：来自POPPE注册处的数据
3. Sequence variants and genotypes among 898 patients with Pompe disease: data from the Pompe Registry [J] . Kishnani Priya S., Abbott Mary Alice, Chien Yin-Hsiu, Molecular genetics and metabolism . 2017,第1a2期

机译：898例Pompe疾病患者中的序列变体和基因型：来自POPPE注册处的数据
4. Microfluidic PCR Amplification for Next-Generation Sequencing of GAA to Detect Mutations that Cause Pompe Disease [C] . Patricia W. Mueller, Gregory R. Kerr, Justine I. Lyons, International Sample Prep Technologies Conference . 2015

机译：Gaa的下一代测序的微流体PCR扩增以检测引起群众疾病的突变
5. A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells [D] . Yoshida, Takeshi 2019

机译：患儿特异性iPS细胞的小儿发作性庞贝病的骨骼肌模型
6. Characteristics of Pompe disease in China: a report from the Pompe registry [O] . Yuying Zhao, Zhaoxia Wang, Jiahong Lu, 2019

机译：中国庞贝病的特征：庞贝病登记处的报告
7. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry [O] . Arnold J. J. Reuser, Ans T. Ploeg, Yin‐Hsiu Chien, 2019

机译：1,079例Pompe疾病患者的GAA变体和表型：来自POPPE注册表的数据

Characteristics of Pompe disease patients with and without the c.-32-13 T > G (IVS1) variant: Data from the Pompe Registry

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