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Nonsense mutation

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami

published 11 Mar 2014

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Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing

Dong-Jun Xing, Hong-Xing Zhang, Na Huang, Kun-Chao Wu, Xiu-Feng Huang, Fang Huang, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin

published 07 Mar 2014

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Identification of Transforming Hepatitis B Virus S Gene Nonsense Mutations Derived from Freely Replicative Viruses in Hepatocellular Carcinoma

Shiu-Feng Huang, Ya-Ting Chen, Wei-Chen Lee, Il-Chi Chang, Yu-Ting Chiu, Yu Chang, Hsiao-Chen Tu, Chiou-Hwa Yuh, Isao Matsuura, Liang-Yu Shih, Ming-Wei Lai, Hong-Dar Isaac Wu, Miin-Fu Chen, Chau-Ting Yeh

published 24 Feb 2014

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Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model

Marjolijn Renard, Bram Trachet, Christophe Casteleyn, Laurence Campens, Pieter Cornillie, Bert Callewaert, Steven Deleye, Bert Vandeghinste, Paula M. van Heijningen, Harry Dietz, Filip De Vos, Jeroen Essers, Steven Staelens, Patrick Segers, Bart Loeys, Paul Coucke, Anne De Paepe, Julie De Backer

published 24 Feb 2014

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High Frequency, Spontaneous motA Mutations in Campylobacter jejuni Strain 81-176

Krystle L. Mohawk, Frédéric Poly, Jason W. Sahl, David A. Rasko, Patricia Guerry

published 18 Feb 2014

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A Novel Radiation-Induced p53 Mutation Is Not Implicated in Radiation Resistance via a Dominant-Negative Effect

Yunguang Sun, Carey Jeanne Myers, Adam Paul Dicker, Bo Lu

published 18 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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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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p120RasGAP Is a Mediator of Rho Pathway Activation and Tumorigenicity in the DLD1 Colorectal Cancer Cell Line

Shawna L. Organ, Josephine Hai, Nikolina Radulovich, Christopher B. Marshall, Lisa Leung, Takehiko Sasazuki, Senji Shirasawa, Chang-Qi Zhu, Roya Navab, Mitsuhiko Ikura, Ming-Sound Tsao

published 21 Jan 2014

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Identification of Mutations in the PYRIN-Containing NLR Genes (NLRP) in Head and Neck Squamous Cell Carcinoma

Yu Lei, Vivian W. Y. Lui, Jennifer R. Grandis, Ann Marie Egloff

published 21 Jan 2014

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Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation

Liping Yang, Xiaobei Yin, Lina Feng, Debo You, Lemeng Wu, Ningning Chen, Aijun Li, Genlin Li, Zhizhong Ma

published 15 Jan 2014

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Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE

Aparna Ganapathy, Nishtha Pandey, C. R. Srikumari Srisailapathy, Rajeev Jalvi, Vikas Malhotra, Mohan Venkatappa, Arunima Chatterjee, Meenakshi Sharma, Rekha Santhanam, Shelly Chadha, Arabandi Ramesh, Arun K. Agarwal, Raghunath R. Rangasayee, Anuranjan Anand

published 08 Jan 2014

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6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

Marika Pane, Elena S. Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C. Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P. Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri

published 08 Jan 2014

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