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Insertion mutation

A Conserved Pre-Block Interaction Motif Regulates Potassium Channel Activation and N-Type Inactivation

Paul J. Pfaffinger

published 13 Nov 2013

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A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

Fang Lu, Lulin Huang, Chuntao Lei, Guiquan Sha, Hong Zheng, Xiaoqi Liu, Jiyun Yang, Yi Shi, Ying Lin, Bo Gong, Xianjun Zhu, Shi Ma, Lifeng Qiao, He Lin, Jing Cheng, Zhenglin Yang

published 11 Nov 2013

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Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

Alejandro Garanto, Sylvia E. C. van Beersum, Theo A. Peters, Ronald Roepman, Frans P. M. Cremers, Rob W. J. Collin

published 06 Nov 2013

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Mu-seq: Sequence-Based Mapping and Identification of Transposon Induced Mutations

Donald R. McCarty, Sue Latshaw, Shan Wu, Masaharu Suzuki, Charles T. Hunter, Wayne T. Avigne, Karen E. Koch

published 23 Oct 2013

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Industrial Robustness: Understanding the Mechanism of Tolerance for the Populus Hydrolysate-Tolerant Mutant Strain of Clostridium thermocellum

Jessica L. Linville, Miguel Rodriguez Jr., Miriam Land, Mustafa H. Syed, Nancy L. Engle, Timothy J. Tschaplinski, Jonathan R. Mielenz, Chris D. Cox

published 21 Oct 2013

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Identification of New Drug Targets and Resistance Mechanisms in Mycobacterium tuberculosis

Thomas R. Ioerger, Theresa O’Malley, Reiling Liao, Kristine M. Guinn, Mark J. Hickey, Nilofar Mohaideen, Kenan C. Murphy, Helena I. M. Boshoff, Valerie Mizrahi, Eric J. Rubin, Christopher M. Sassetti, Clifton E. Barry III, David R. Sherman, Tanya Parish, James C. Sacchettini

published 23 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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Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients

Anshuman Verma, Vijayalakshmi Perumalsamy, Shashikant Shetty, Maigi Kulm, Periasamy Sundaresan

published 16 Sep 2013

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Myc-Dependent Genome Instability and Lifespan in Drosophila

Christina Greer, Moonsook Lee, Maaike Westerhof, Brandon Milholland, Rebecca Spokony, Jan Vijg, Julie Secombe

published 06 Sep 2013

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Increased Risk of Q151M and K65R Mutations in Patients Failing Stavudine-Containing First-Line Antiretroviral Therapy in Cambodia

Janin Nouhin, Yoann Madec, Nicole Ngo-Giang-Huong, Laurent Ferradini, Eric Nerrienet

published 28 Aug 2013

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Clinical Relevance of Gain-Of-Function Mutations of p53 in High-Grade Serous Ovarian Carcinoma

Hyo Jeong Kang, Sung-Min Chun, Kyu-Rae Kim, Insuk Sohn, Chang Ohk Sung

published 13 Aug 2013

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Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio, Naoyuki Kamatani, Shin-ichi Usami

published 13 Aug 2013

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Identification of a Lifespan Extending Mutation in the Schizosaccharomyces pombe Cyclin Gene clg1⁺ by Direct Selection of Long-Lived Mutants

Bo-Ruei Chen, Yanhui Li, Jessica R. Eisenstatt, Kurt W. Runge

published 09 Jul 2013

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