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Point 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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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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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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A Point Mutation in cycA Partially Contributes to the D-cycloserine Resistance Trait of Mycobacterium bovis BCG Vaccine Strains

Jeffrey M. Chen, Swapna Uplekar, Stephen V. Gordon, Stewart T. Cole

published 17 Aug 2012

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Random Mutagenesis Reveals Residues of JAK2 Critical in Evading Inhibition by a Tyrosine Kinase Inhibitor

Michael R. Marit, Manprit Chohan, Natasha Matthew, Kai Huang, Douglas A. Kuntz, David R. Rose, Dwayne L. Barber

published 16 Aug 2012

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Functional and Structural Comparison of Pyrrolnitrin- and Iprodione-Induced Modifications in the Class III Histidine-Kinase Bos1 of Botrytis cinerea

Sabine Fillinger, Sakhr Ajouz, Philippe C. Nicot, Pierre Leroux, Marc Bardin

published 13 Aug 2012

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The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins

Hiroyuki O. Ishikawa, Aiguo Xu, Eri Ogura, Gerard Manning, Kenneth D. Irvine

published 10 Aug 2012

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Intragenic Enhancers and Suppressors of Phytoene Desaturase Mutations in Chlamydomonas reinhardtii

Phoi T. Tran, Marina N. Sharifi, Subhajit Poddar, Rachel M. Dent, Krishna K. Niyogi

published 10 Aug 2012

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Understanding the Basis of Drug Resistance of the Mutants of αβ-Tubulin Dimer via Molecular Dynamics Simulations

Kathiresan Natarajan, Sanjib Senapati

published 07 Aug 2012

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Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation

Jae Woong Bae, Dong-Bin Kim, Jae Young Choi, Hong-Joon Park, Jong Dae Lee, Dong Gu Hur, Seung-Hyun Bae, Da Jung Jung, Sang Heun Lee, Un-Kyung Kim, Kyu Yup Lee

published 06 Aug 2012

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Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men

Jasmine Lim, Geoffrey J. Maher, Gareth D. H. Turner, Wioleta Dudka-Ruszkowska, Stephen Taylor, Ewa Rajpert-De Meyts, Anne Goriely, Andrew O. M. Wilkie

published 06 Aug 2012

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Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Helene Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo-Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati-Bonneau, Antonio Torroni, Valerio Carelli

published 03 Aug 2012

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Yeasts Acquire Resistance Secondary to Antifungal Drug Treatment by Adaptive Mutagenesis

David Quinto-Alemany, Ana Canerina-Amaro, Luís G. Hernández-Abad, Félix Machín, Floyd E. Romesberg, Cristina Gil-Lamaignere

published 31 Jul 2012

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