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Mutation

A Comparison of EGFR Mutation Testing Methods in Lung Carcinoma: Direct Sequencing, Real-time PCR and Immunohistochemistry

Bárbara Angulo, Esther Conde, Ana Suárez-Gauthier, Carlos Plaza, Rebeca Martínez, Pilar Redondo, Elisa Izquierdo, Belén Rubio-Viqueira, Luis Paz-Ares, Manuel Hidalgo, Fernando López-Ríos

published 27 Aug 2012

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A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Vandana A. Gupta, Genri Kawahara, Jennifer A. Myers, Aye T. Chen, Thomas E. Hall, M. Chiara Manzini, Peter D. Currie, Yi Zhou, Leonard I. Zon, Louis M. Kunkel, Alan H. Beggs

published 27 Aug 2012

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Molecular Evolutionary Analysis of pH1N1 2009 Influenza Virus in Reunion Island, South West Indian Ocean Region: A Cohort Study

Hervé Pascalis, Sarah Temmam, David A. Wilkinson, Najla Dsouli, Magali Turpin, Xavier de Lamballerie, Koussay Dellagi

published 27 Aug 2012

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Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

Selina Wray, Matthew Self, NINDS Parkinson's Disease iPSC Consortium , NINDS Huntington's Disease iPSC Consortium , NINDS ALS iPSC Consortium , Patrick A. Lewis, Jan-Willem Taanman, Natalie S. Ryan, Colin J. Mahoney, Yuying Liang, Michael J. Devine, Una-Marie Sheerin, Henry Houlden, Huw R. Morris, Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A. Corriveau, Michael D'Andrea, Anthony H. V. Schapira, Ryan J. Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J. Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F. Boeve, Kevin Boylan, A. Jon Stoessl, Owen A. Ross, Nicholas J. Maragakis, Jay Van Gerpen, Melissa Gerstenhaber, Katrina Gwinn, Ted M. Dawson, Ole Isacson, Karen S. Marder, Lorraine N. Clark, Serge E. Przedborski, Steven Finkbeiner, Jeffrey D. Rothstein, Zbigniew K. Wszolek, Martin N. Rossor, John Hardy

published 27 Aug 2012

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Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol

Ian Tietjen, G. Kees Hovingh, Roshni R. Singaraja, Chris Radomski, Amina Barhdadi, Jason McEwen, Elden Chan, Maryanne Mattice, Annick Legendre, Patrick L. Franchini, Marie-Pierre Dubé, John J. P. Kastelein, Michael R. Hayden

published 27 Aug 2012

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The Consistency of Beneficial Fitness Effects of Mutations across Diverse Genetic Backgrounds

Victoria M. Pearson, Craig R. Miller, Darin R. Rokyta

published 24 Aug 2012

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A Spectrum of Pleiotropic Consequences in Development Due to Changes in a Regulatory Pathway

Ana E. Escalante, Sumiko Inouye, Michael Travisano

published 24 Aug 2012

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A Putative Gene sbe3-rs for Resistant Starch Mutated from SBE3 for Starch Branching Enzyme in Rice (Oryza sativa L.)

Ruifang Yang, Chunlong Sun, Jianjiang Bai, Zhixiang Luo, Biao Shi, Jianming Zhang, Wengui Yan, Zhongze Piao

published 24 Aug 2012

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Effects of Altered Catecholamine Metabolism on Pigmentation and Physical Properties of Sclerotized Regions in the Silkworm Melanism Mutant

Liang Qiao, Yuanhao Li, Gao Xiong, Xiaofan Liu, Songzhen He, Xiaoling Tong, Songyuan Wu, Hai Hu, Rixin Wang, Hongwei Hu, Lushi Chen, Li Zhang, Jie Wu, Fangyin Dai, Cheng Lu, Zhonghuai Xiang

published 24 Aug 2012

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I223R Mutation in Influenza A(H1N1)pdm09 Neuraminidase Confers Reduced Susceptibility to Oseltamivir and Zanamivir and Enhanced Resistance with H275Y

Jérome LeGoff, Dominique Rousset, Georges Abou-Jaoudé, Anne Scemla, Patricia Ribaud, Séverine Mercier-Delarue, Valérie Caro, Vincent Enouf, François Simon, Jean-Michel Molina, Sylvie van der Werf

published 24 Aug 2012

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Structural Determinants of the Outer Shell of β-Carboxysomes in Synechococcus elongatus PCC 7942: Roles for CcmK2, K3-K4, CcmO, and CcmL

Benjamin D. Rae, Benedict M. Long, Murray R. Badger, G. Dean Price

published 22 Aug 2012

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Mutations in Escherichia coli aceE and ribB Genes Allow Survival of Strains Defective in the First Step of the Isoprenoid Biosynthesis Pathway

Jordi Perez-Gil, Eva Maria Uros, Susanna Sauret-Güeto, L. Maria Lois, James Kirby, Minobu Nishimoto, Edward E. K. Baidoo, Jay D. Keasling, Albert Boronat, Manuel Rodriguez-Concepcion

published 21 Aug 2012

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Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

Qin Liu, Rob W. J. Collin, Frans P. M. Cremers, Anneke I. den Hollander, L. Ingeborgh van den Born, Eric A. Pierce

published 21 Aug 2012

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