首页> 外文OA文献 >Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio

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Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio

机译：具有晚发性pompe病的三个兄弟姐妹中的纯合子内向Gaa突变三个兄弟姐妹中晚发性pompe病的Intronic纯合Gaa突变

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Anderson Kuntz Grzesiuk; Sueli Mieko Oba Shinjo; Roseli da Silva; Marcela Machado; Marcial Francis Galera; Suely Kazue Nagahashi Marie;
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年度 2010
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1. Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease [J] . Anderson Kuntz Grzesiuk, Marcela Machado, Marcial Francis Galera, Arquivos de Neuro-Psiquiatria . 2010,第2期

机译：三个患有晚期庞贝氏病的兄弟姐妹的纯合内含子GAA突变
2. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G?>?C as the most common mutation [J] . Xiao Liu, Zhaoxia Wang, Weina Jin, BMC Medical Genetics . 2014,第1期

机译：中国大陆晚期庞贝病患者的临床和GAA基因突变分析：确定c.2238G？>？C是最常见的突变
3. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G?>?C as the most common mutation [J] . Xiao Liu, Zhaoxia Wang, Weina Jin, BMC Medical Genetics . 2014,第1期

机译：中国大陆晚期庞贝病患者的临床和GAA基因突变分析：确定c.2238G？>？C是最常见的突变
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. Los orígenes de la teoría y crítica cinematográficas en España y su influencia en el discurso narrativo de la vanguardia hispánica [D] . Nanclares, Gustavo 2005

机译：西班牙电影理论和批评的起源及其对西班牙前卫叙事话语的影响
6. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G C as the most common mutation [O] . Xiao Liu, Zhaoxia Wang, Weina Jin, 2014

机译：中国大陆晚期庞贝病患者的临床和GAA基因突变分析：确定c.2238G C是最常见的突变
7. Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio [O] . Anderson Kuntz Grzesiuk, Sueli Mieko Oba Shinjo, Roseli da Silva, 2010

机译：具有晚发性pompe病的三个兄弟姐妹中的纯合子内向Gaa突变三个兄弟姐妹中晚发性pompe病的Intronic纯合Gaa突变

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio

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