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Frameshift mutation

Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron

published 03 Mar 2014

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Molecular Characterization of HBV Strains Circulating among the Treatment-Naive HIV/HBV Co-Infected Patients of Eastern India

Debraj Saha, Ananya Pal, Avik Biswas, Rajesh Panigrahi, Neelakshi Sarkar, Dipanwita Das, Jayeeta Sarkar, Subhasish Kamal Guha, Bibhuti Saha, Sekhar Chakrabarti, Runu Chakravarty

published 28 Feb 2014

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A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

Yu Su, Wen-Xue Tang, Xue Gao, Fei Yu, Zhi-Yao Dai, Jian-Dong Zhao, Yu Lu, Fei Ji, Sha-Sha Huang, Yong-Yi Yuan, Ming-Yu Han, Yue-Shuai Song, Yu-Hua Zhu, Dong-Yang Kang, Dong-Yi HAN, Pu Dai

published 21 Feb 2014

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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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