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Mutation detection

Added Value of Deep Sequencing Relative to Population Sequencing in Heavily Pre-Treated HIV-1-Infected Subjects

Francisco M. Codoñer, Christian Pou, Alexander Thielen, Federico García, Rafael Delgado, David Dalmau, Miguel Álvarez-Tejado, Lidia Ruiz, Bonaventura Clotet, Roger Paredes

published 13 May 2011

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Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik

published 13 May 2011

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Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens

Silvia Querings, Janine Altmüller, Sascha Ansén, Thomas Zander, Danila Seidel, Franziska Gabler, Martin Peifer, Eva Markert, Kathryn Stemshorn, Bernd Timmermann, Beate Saal, Stefan Klose, Karen Ernestus, Matthias Scheffler, Walburga Engel-Riedel, Erich Stoelben, Elisabeth Brambilla, Jürgen Wolf, Peter Nürnberg, Roman K. Thomas

published 05 May 2011

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Multiplex Fluorescence Melting Curve Analysis for Mutation Detection with Dual-Labeled, Self-Quenched Probes

Qiuying Huang, Zanzan Liu, Yiqun Liao, Xiaoyun Chen, Yi Zhang, Qingge Li

published 28 Apr 2011

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Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

Alberto Gómez-Carballa, María Cerezo, Emilia Balboa, Claudia Heredia, Lidia Castro-Feijóo, Itxaso Rica, Jesús Barreiro, Jesús Eirís, Paloma Cabanas, Isabel Martínez-Soto, Joaquín Fernández-Toral, Manuel Castro-Gago, Manuel Pombo, Ángel Carracedo, Francisco Barros, Antonio Salas

published 19 Apr 2011

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A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1

Gottfrid Sjödahl, Martin Lauss, Sigurdur Gudjonsson, Fredrik Liedberg, Christer Halldén, Gunilla Chebil, Wiking Månsson, Mattias Höglund, David Lindgren

published 14 Apr 2011

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Splice Site Mutations in the ATP7A Gene

Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller

published 11 Apr 2011

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Rapid KRAS, EGFR, BRAF and PIK3CA Mutation Analysis of Fine Needle Aspirates from Non-Small-Cell Lung Cancer Using Allele-Specific qPCR

Ronald van Eijk, Jappe Licht, Melanie Schrumpf, Mehrdad Talebian Yazdi, Dina Ruano, Giusi I. Forte, Petra M. Nederlof, Maud Veselic, Klaus F. Rabe, Jouke T. Annema, Vincent Smit, Hans Morreau, Tom van Wezel

published 08 Mar 2011

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Multicolor Combinatorial Probe Coding for Real-Time PCR

Qiuying Huang, Linlin Zheng, Yumei Zhu, Jiafeng Zhang, Huixin Wen, Jianwei Huang, Jianjun Niu, Xilin Zhao, Qingge Li

published 14 Jan 2011

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K70Q Adds High-Level Tenofovir Resistance to “Q151M Complex” HIV Reverse Transcriptase through the Enhanced Discrimination Mechanism

Atsuko Hachiya, Eiichi N. Kodama, Matthew M. Schuckmann, Karen A. Kirby, Eleftherios Michailidis, Yasuko Sakagami, Shinichi Oka, Kamalendra Singh, Stefan G. Sarafianos

published 13 Jan 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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Detection of Resistance Mutations to Antivirals Oseltamivir and Zanamivir in Avian Influenza A Viruses Isolated from Wild Birds

Goran Orozovic, Kanita Orozovic, Johan Lennerstrand, Björn Olsen

published 06 Jan 2011

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Mutation Detection with Next-Generation Resequencing through a Mediator Genome

Omri Wurtzel, Mally Dori-Bachash, Shmuel Pietrokovski, Edouard Jurkevitch, Rotem Sorek

published 31 Dec 2010

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