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Deletion mutation

Mathematical Modeling of the Role of Mitochondrial Fusion and Fission in Mitochondrial DNA Maintenance

Zhi Yang Tam, Jan Gruber, Barry Halliwell, Rudiyanto Gunawan

published 11 Oct 2013

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Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain

published 10 Oct 2013

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GSTT1 Copy Number Gain and ZNF Overexpression Are Predictors of Poor Response to Imatinib in Gastrointestinal Stromal Tumors

Eui Jin Lee, Guhyun Kang, Shin Woo Kang, Kee-Taek Jang, Jeeyun Lee, Joon Oh Park, Cheol Keun Park, Tae Sung Sohn, Sung Kim, Kyoung-Mee Kim

published 04 Oct 2013

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Genetically Engineered Frameshifted YopN-TyeA Chimeras Influence Type III Secretion System Function in Yersinia pseudotuberculosis

Ayad A. A. Amer, Tiago R. D. Costa, Salah I. Farag, Ummehan Avican, Åke Forsberg, Matthew S. Francis

published 03 Oct 2013

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Peroxisome Protein Transportation Affects Metabolism of Branched-Chain Fatty Acids That Critically Impact Growth and Development of C. elegans

Rencheng Wang, Marina Kniazeva, Min Han

published 27 Sep 2013

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Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia

Cynthia Yu-Wai-Man, Fiona E. Smith, Michael J. Firbank, Grant Guthrie, Stuart Guthrie, Grainne S. Gorman, Robert W. Taylor, Douglass M. Turnbull, Philip G. Griffiths, Andrew M. Blamire, Patrick F. Chinnery, Patrick Yu-Wai-Man

published 27 Sep 2013

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SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, Xin-Jing Zhao, Mei Deng, Yan-Li Ma, Li Guo, Feng-Ping Chen, Xiao-Ling Long, Xiang-Ling He, Yoshihide Sunada, Shun Soneda, Akiko Nakatomi, Sumito Dateki, Lock-Hock Ngu, Keiko Kobayashi, Takeyori Saheki

published 19 Sep 2013

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TOX3 Mutations in Breast Cancer

James Owain Jones, Suet-Feung Chin, Li-An Wong-Taylor, Donna Leaford, Bruce A. J. Ponder, Carlos Caldas, Ana-Teresa Maia

published 19 Sep 2013

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Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Alvaro Madrid, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Luis Castaño, Gema Ariceta, RenalTube Group

published 18 Sep 2013

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Allosteric Coupling between the Intracellular Coupling Helix 4 and Regulatory Sites of the First Nucleotide-binding Domain of CFTR

Jennifer E. Dawson, Patrick J. Farber, Julie D. Forman-Kay

published 18 Sep 2013

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Normal Mutation Rate Variants Arise in a Mutator (Mut S) Escherichia coli Population

María-Carmen Turrientes, Fernando Baquero, Bruce R. Levin, José-Luis Martínez, Aida Ripoll, José-María González-Alba, Raquel Tobes, Marina Manrique, Maria-Rosario Baquero, Mario-José Rodríguez-Domínguez, Rafael Cantón, Juan-Carlos Galán

published 12 Sep 2013

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RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

published 06 Sep 2013

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Is Upregulation of BCL2 a Determinant of Tumor Development Driven by Inactivation of CDH1/E-Cadherin?

Inga Karch, Elisa Schipper, Henriette Christgen, Hans Kreipe, Ulrich Lehmann, Matthias Christgen

published 30 Aug 2013

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