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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

机译：特定C190RF12同种型内的显性线粒体膜蛋白相关神经变性（MPAN）变体簇

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Olivia J. Rickman; Claire G. Salter; Adam C. Gunning; James Fasham; Nikol Voutsina; Joseph S. Leslie; Lucy McGavin; Harold E. Cross; Jennifer E. Posey; Zeynep Coban Akdemir; Shalini N. Jhangiani; James R. Lupski; Emma L. Baple; Andrew H. Crosby;
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1. A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) [J] . Nabil Al Macki, Ismail Al Rashdi Oman Medical Journal . 2017,第1期

机译：阿曼家族中与线粒体膜蛋白相关的神经变性（MPAN）的C19orf12基因外显子2的新型缺失突变。
2. Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life [J] . Gowda Vykuntaraju K., Patil Arundhati, Srinivasan Varunvenkat M., Indian journal of pediatrics . 2019,第8期

机译：线粒体膜蛋白相关的神经变性（MPAN）在生命的第一个十年内具有新的C19ORF12突变
3. Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration [J] . Dusek Petr, Mekle Ralf, Skowronska Marta, Trends in Ecology & Evolution . 2020,第1期

机译：C19Orif12突变载体中的脑钢和代谢异常：3.0特斯拉MRI研究线粒体膜蛋白相关神经变性
4. State-Specific Multireference Coupled Cluster-Based Methods for Potential Energy Surfaces and Their Approximate Variants [C] . Sudip Chattopadhyay, Uttam Sinha Mahapatra, Pradipta Ghosh, Low-Lying Electronic States and Potential Energy Surfaces Symposium at the 221st National Meeting of the American Chemical Society (ACS), Mar 30-Apr 4, 2001, San Diego, California . 2001

机译：基于状态的多参考耦合基于簇的势能面方法及其近似变体
5. Superresolution Imaging, Trafficking, and Clustering of a Human Cytomegalovirus Immediate Early Protein on the Outer Mitochondrial Membrane. [D] . Salka, Kyle P. 2015

机译：超解析成像，贩运和群集的人类线粒体外膜线粒体上的早期蛋白质。
6. A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) [O] . Nabil Al Macki, Ismail Al Rashdi 2017

机译：与线粒体膜蛋白相关的神经变性（MPAN）的阿曼家庭中的C19orf12基因外显子2的新型删除突变。
7. A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) [O] . Nabil Al Macki, Ismail Al Rashdi 2017

机译：具有线粒体膜蛋白相关神经变性（mpaN）的阿曼家族中C19orf12基因外显子2的新型缺失突变

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

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