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Frameshift mutation

Microevolution during an Anthrax Outbreak Leading to Clonal Heterogeneity and Penicillin Resistance

Joakim Ågren, Maria Finn, Björn Bengtsson, Bo Segerman

published 13 Feb 2014

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Chimeras of p14ARF and p16: Functional Hybrids with the Ability to Arrest Growth

Richard T. Williams, Lisa M. Barnhill, Huan-Hsien Kuo, Wen-Der Lin, Ayse Batova, Alice L. Yu, Mitchell B. Diccianni

published 05 Feb 2014

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In Vivo Evolution of a Catalytic RNA Couples Trans-Splicing to Translation

Karen E. Olson, Gregory F. Dolan, Ulrich F. Müller

published 23 Jan 2014

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Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Ángel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas

published 23 Jan 2014

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Two-Exon Skipping within MLPH Is Associated with Coat Color Dilution in Rabbits

Stefanie Lehner, Marion Gähle, Claudia Dierks, Ricarda Stelter, Jonathan Gerber, Ralph Brehm, Ottmar Distl

published 20 Dec 2013

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A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli

published 16 Dec 2013

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Whole Exome Sequencing Identifies Novel Recurrently Mutated Genes in Patients with Splenic Marginal Zone Lymphoma

Marina Parry, Matthew J. J. Rose-Zerilli, Jane Gibson, Sarah Ennis, Renata Walewska, Jade Forster, Helen Parker, Zadie Davis, Anne Gardiner, Andrew Collins, David G. Oscier, Jonathan C. Strefford

published 13 Dec 2013

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Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma

Yan Wang, Yu Hong, Man Li, Jiang Long, Yan-Ping Zhao, Jun-Xia Zhang, Qian Li, Hong You, Wei-Min Tong, Ji-Dong Jia, Jian Huang

published 13 Dec 2013

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Mutation at Intronic Repeats of the Ataxia-Telangiectasia Mutated (ATM) Gene and ATM Protein Loss in Primary Gastric Cancer with Microsatellite Instability

Hee Sung Kim, Seung Im Choi, Hae Lim Min, Min A. Kim, Woo Ho Kim

published 06 Dec 2013

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Whole Genome Sequencing Reveals Complex Evolution Patterns of Multidrug-Resistant Mycobacterium tuberculosis Beijing Strains in Patients

Matthias Merker, Thomas A. Kohl, Andreas Roetzer, Leona Truebe, Elvira Richter, Sabine Rüsch-Gerdes, Lanfranco Fattorini, Marco R. Oggioni, Helen Cox, Francis Varaine, Stefan Niemann

published 06 Dec 2013

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Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E. C. Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N. Hendy, Leonardo D’Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri

published 05 Dec 2013

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The Genetic Basis of a Rare Flower Color Polymorphism in Mimulus lewisii Provides Insight into the Repeatability of Evolution

Carrie A. Wu, Matthew A. Streisfeld, Laura I. Nutter, Kaitlyn A. Cross

published 03 Dec 2013

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Functional Characterization of a Novel Frameshift Mutation in the C-terminus of the Nav1.5 Channel Underlying a Brugada Syndrome with Variable Expression in a Spanish Family

Pablo Dolz-Gaitón, Mercedes Núñez, Lucía Núñez, Adriana Barana, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, Marta González de la Fuente, Miguel Álvarez-López, Rosa Macías-Ruiz, Luis Tercedor-Sánchez, Juan Jiménez-Jáimez, Eva Delpón, Ricardo Caballero, Juan Tamargo

published 25 Nov 2013

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