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Substitution mutation

A Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses

Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen

published 11 Apr 2014

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Location of Dual Sites in E. coli FtsZ Important for Degradation by ClpXP; One at the C-Terminus and One in the Disordered Linker

Jodi L. Camberg, Marissa G. Viola, Leslie Rea, Joel R. Hoskins, Sue Wickner

published 10 Apr 2014

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Functional Analysis of a Missense Mutation in the Serine Protease Inhibitor SPINT2 Associated with Congenital Sodium Diarrhea

Nicolas Faller, Ivan Gautschi, Laurent Schild

published 10 Apr 2014

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Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria

Melissa D. Lage, Adrianne M. C. Pittman, Alessandro Roncador, Barbara Cellini, Chandra L. Tucker

published 09 Apr 2014

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A Model-Based Approach to Identify Binding Sites in CLIP-Seq Data

Tao Wang, Beibei Chen, MinSoo Kim, Yang Xie, Guanghua Xiao

published 08 Apr 2014

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Affinity- and Specificity-Enhancing Mutations Are Frequent in Multispecific Interactions between TIMP2 and MMPs

Oz Sharabi, Jason Shirian, Moran Grossman, Mario Lebendiker, Irit Sagi, Julia Shifman

published 07 Apr 2014

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Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu, Kangmo Lu, Guanghui Yang, Zhong Cen, Li Yu, Lin Lin, Jing Hao, Zhigang Yang, Jiabao Peng, Shujian Cui, Jian Huang

published 04 Apr 2014

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Influenza A H1N1 Pandemic Strain Evolution – Divergence and the Potential for Antigenic Drift Variants

Eili Y. Klein, Adrian W. R. Serohijos, Jeong-Mo Choi, Eugene I. Shakhnovich, Andrew Pekosz

published 03 Apr 2014

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HIV-2 Integrase Polymorphisms and Longitudinal Genotypic Analysis of HIV-2 Infected Patients Failing a Raltegravir-Containing Regimen

Joana Cavaco-Silva, Ana Abecasis, Ana Cláudia Miranda, José Poças, Jorge Narciso, Maria João Águas, Fernando Maltez, Isabel Almeida, Isabel Germano, António Diniz, Maria de Fátima Gonçalves, Perpétua Gomes, Celso Cunha, Ricardo Jorge Camacho, on behalf of the Portuguese HIV-2 Resistance Study Group

published 28 Mar 2014

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Alterations in HIV-1 gp120 V3 Region Are Necessary but Not Sufficient for Coreceptor Switching in CRF07_BC in China

Lei Zhang, Liying Ma, Zheng Wang, Yan Wang, Jing Zhang, Haining Wang, Yiming Shao

published 27 Mar 2014

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Phenotypic and Genotypic Characteristics of Novel Mouse Cell Line (NIH/3T3)-Adapted Human Enterovirus 71 Strains (EV71:TLLm and EV71:TLLmv)

Carla Bianca Luena Victorio, Yishi Xu, Qimei Ng, Vincent T. K. Chow, Kaw Bing Chua

published 26 Mar 2014

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Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene

Melisa Taboas, Luciana Gómez Acuña, María Florencia Scaia, Carlos D. Bruque, Noemí Buzzalino, Mirta Stivel, Nora R. Ceballos, Liliana Dain

published 25 Mar 2014

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Phenotypic Diversity of Breast Cancer-Related Mutations in Metalloproteinase-Disintegrin ADAM12

Yue Qi, Sara Duhachek-Muggy, Hui Li, Anna Zolkiewska

published 20 Mar 2014

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