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Frameshift mutation

Using Genomic Sequencing for Classical Genetics in E. coli K12

Eric Lyons, Michael Freeling, Sydney Kustu, William Inwood

published 25 Feb 2011

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Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Carolina Minutolo, Alejandro D. Nadra, Cecilia Fernández, Melisa Taboas, Noemí Buzzalino, Bárbara Casali, Susana Belli, Eduardo H. Charreau, Liliana Alba, Liliana Dain

published 11 Jan 2011

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Nonsense Mediated Decay Resistant Mutations Are a Source of Expressed Mutant Proteins in Colon Cancer Cell Lines with Microsatellite Instability

David S. Williams, Matthew J. Bird, Robert N. Jorissen, Yen Lin Yu, Franscesa Walker, Hui Hua Zhang, Edouard C. Nice, Antony W. Burgess

published 31 Dec 2010

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Genome Analysis of Treponema pallidum subsp. pallidum and subsp. pertenue Strains: Most of the Genetic Differences Are Localized in Six Regions

Lenka Mikalová, Michal Strouhal, Darina Čejková, Marie Zobaníková, Petra Pospíšilová, Steven J. Norris, Erica Sodergren, George M. Weinstock, David Šmajs

published 29 Dec 2010

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Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

Bernd Timmermann, Martin Kerick, Christina Roehr, Axel Fischer, Melanie Isau, Stefan T. Boerno, Andrea Wunderlich, Christian Barmeyer, Petra Seemann, Jana Koenig, Michael Lappe, Andreas W. Kuss, Masoud Garshasbi, Lars Bertram, Kathrin Trappe, Martin Werber, Bernhard G. Herrmann, Kurt Zatloukal, Hans Lehrach, Michal R. Schweiger

published 22 Dec 2010

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Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel

published 26 Oct 2010

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Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation

Gisela Nogales-Gadea, Emma Mormeneo, Inés García-Consuegra, Juan C. Rubio, Anna Orozco, Joaquin Arenas, Miguel A. Martín, Alejandro Lucia, Anna M. Gómez-Foix, Ramon Martí, Antoni L. Andreu

published 05 Oct 2010

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Mucoidy, Quorum Sensing, Mismatch Repair and Antibiotic Resistance in Pseudomonas aeruginosa from Cystic Fibrosis Chronic Airways Infections

Sofía Feliziani, Adela M. Luján, Alejandro J. Moyano, Claudia Sola, José L. Bocco, Patricia Montanaro, Liliana Fernández Canigia, Carlos E. Argaraña, Andrea M. Smania

published 10 Sep 2010

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Mutational Profiling of Kinases in Human Tumours of Pancreatic Origin Identifies Candidate Cancer Genes in Ductal and Ampulla of Vater Carcinomas

Vincenzo Corbo, Rossana Ritelli, Stefano Barbi, Niccola Funel, Daniela Campani, Alberto Bardelli, Aldo Scarpa

published 08 Sep 2010

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Competition of Escherichia coli DNA Polymerases I, II and III with DNA Pol IV in Stressed Cells

P. J. Hastings, Megan N. Hersh, P. C. Thornton, Natalie C. Fonville, Andrew Slack, Ryan L. Frisch, Mellanie P. Ray, Reuben S. Harris, Suzanne M. Leal, Susan M. Rosenberg

published 27 May 2010

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The Retinitis Pigmentosa Mutation c.3444+1G>A in CNGB1 Results in Skipping of Exon 32

Elvir Becirovic, Kostadinka Nakova, Verena Hammelmann, Roman Hennel, Martin Biel, Stylianos Michalakis

published 29 Jan 2010

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Activin Signaling in Microsatellite Stable Colon Cancers Is Disrupted by a Combination of Genetic and Epigenetic Mechanisms

Barbara Jung, Jessica Gomez, Eddy Chau, Jennifer Cabral, Jeffrey K. Lee, Aimee Anselm, Przemyslaw Slowik, Deena Ream-Robinson, Karen Messer, Judith Sporn, Sung K. Shin, C. Richard Boland, Ajay Goel, John M. Carethers

published 14 Dec 2009

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Simple Sequence Repeats and Mucoid Conversion: Biased mucA Mutagenesis in Mismatch Repair-Deficient Pseudomonas aeruginosa

Alejandro J. Moyano, Andrea M. Smania

published 07 Dec 2009

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