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Mutation detection

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy

Cheng-Tsung Hsiao, Pei-Chien Tsai, Chou-Ching Lin, Yo-Tsen Liu, Yen-Hua Huang, Yi-Chu Liao, Han-Wei Huang, Kon-Ping Lin, Bing-Wen Soong, Yi-Chung Lee

published 27 Jan 2016

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Validation of a Multiplex Allele-Specific Polymerase Chain Reaction Assay for Detection of KRAS Gene Mutations in Formalin-Fixed, Paraffin-Embedded Tissues from Colorectal Cancer Patients

Sirirat Seekhuntod, Paninee Thavarungkul, Nuntaree Chaichanawongsaroj

published 26 Jan 2016

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Mutations Related to Antiretroviral Resistance Identified by Ultra-Deep Sequencing in HIV-1 Infected Children under Structured Interruptions of HAART

Jose Manuel Vazquez-Guillen, Gerardo C. Palacios-Saucedo, Lydia G. Rivera-Morales, Jorge Garcia-Campos, Rocio Ortiz-Lopez, Marc Noguera-Julian, Roger Paredes, Herlinda J. Vielma-Ramirez, Teresa J. Ramirez, Marcelino Chavez-Garcia, Paulo Lopez-Guillen, Evangelina Briones-Lara, Luz M. Sanchez-Sanchez, Carlos A. Vazquez-Martinez, Cristina Rodriguez-Padilla

published 25 Jan 2016

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FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

Avani Solanki, Purvi Mohanty, Pallavi Shukla, Anita Rao, Kanjaksha Ghosh, Babu Rao Vundinti

published 22 Jan 2016

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Middle East Respiratory Syndrome Coronavirus Intra-Host Populations Are Characterized by Numerous High Frequency Variants

Monica K. Borucki, Victoria Lao, Mona Hwang, Shea Gardner, Danielle Adney, Vincent Munster, Richard Bowen, Jonathan E. Allen

published 20 Jan 2016

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M. Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

published 14 Jan 2016

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A Follow-Up of the Multicenter Collaborative Study on HIV-1 Drug Resistance and Tropism Testing Using 454 Ultra Deep Pyrosequencing

Elizabeth P. St. John, Birgitte B. Simen, Gregory S. Turenchalk, Michael S. Braverman, Isabella Abbate, Jeroen Aerssens, Olivier Bouchez, Christian Gabriel, Jacques Izopet, Karolin Meixenberger, Francesca Di Giallonardo, Ralph Schlapbach, Roger Paredes, James Sakwa, Gudrun G. Schmitz-Agheguian, Alexander Thielen, Martin Victor, Karin J. Metzner, Martin P. Däumer, 454 HIV-1 Alpha Study Group

published 12 Jan 2016

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Benefits and Challenges with Applying Unique Molecular Identifiers in Next Generation Sequencing to Detect Low Frequency Mutations

Ruqin Kou, Ham Lam, Hairong Duan, Li Ye, Narisra Jongkam, Weizhi Chen, Shifang Zhang, Shihong Li

published 11 Jan 2016

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Simplified Paper Format for Detecting HIV Drug Resistance in Clinical Specimens by Oligonucleotide Ligation

Nuttada Panpradist, Ingrid A. Beck, Michael H. Chung, James N. Kiarie, Lisa M. Frenkel, Barry R. Lutz

published 11 Jan 2016

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Individualized Mutation Detection in Circulating Tumor DNA for Monitoring Colorectal Tumor Burden Using a Cancer-Associated Gene Sequencing Panel

Kei A. Sato, Tsuyoshi Hachiya, Takeshi Iwaya, Kohei Kume, Teppei Matsuo, Keisuke Kawasaki, Yukito Abiko, Risaburo Akasaka, Takayuki Matsumoto, Koki Otsuka, Satoshi S. Nishizuka

published 04 Jan 2016

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HIV-1 Drug Resistance Mutations: Potential Applications for Point-of-Care Genotypic Resistance Testing

Soo-Yon Rhee, Michael R. Jordan, Elliot Raizes, Arlene Chua, Neil Parkin, Rami Kantor, Gert U. Van Zyl, Irene Mukui, Mina C. Hosseinipour, Lisa M. Frenkel, Nicaise Ndembi, Raph L. Hamers, Tobias F. Rinke de Wit, Carole L. Wallis, Ravindra K. Gupta, Joseph Fokam, Clement Zeh, Jonathan M. Schapiro, Sergio Carmona, David Katzenstein, Michele Tang, Avelin F. Aghokeng, Tulio De Oliveira, Annemarie M. J. Wensing, Joel E. Gallant, Mark A. Wainberg, Douglas D. Richman, Joseph E. Fitzgibbon, Marco Schito, Silvia Bertagnolio, Chunfu Yang, Robert W. Shafer

published 30 Dec 2015

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Single-Tubed Wild-Type Blocking Quantitative PCR Detection Assay for the Sensitive Detection of Codon 12 and 13 KRAS Mutations

Jun-Fu Huang, Dong-Zhu Zeng, Guang-Jie Duan, Yan Shi, Guo-Hong Deng, Han Xia, Han-Qing Xu, Na Zhao, Wei-Ling Fu, Qing Huang

published 23 Dec 2015

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Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci

published 17 Dec 2015

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