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Mutation detection

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

María González-del Pozo, Salud Borrego, Isabel Barragán, Juan I. Pieras, Javier Santoyo, Nerea Matamala, Belén Naranjo, Joaquín Dopazo, Guillermo Antiñolo

published 02 Dec 2011

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Fitness Conferred by BCR-ABL Kinase Domain Mutations Determines the Risk of Pre-Existing Resistance in Chronic Myeloid Leukemia

Kevin Leder, Jasmine Foo, Brian Skaggs, Mercedes Gorre, Charles L. Sawyers, Franziska Michor

published 28 Nov 2011

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Optimization of a Low Cost and Broadly Sensitive Genotyping Assay for HIV-1 Drug Resistance Surveillance and Monitoring in Resource-Limited Settings

Zhiyong Zhou, Nick Wagar, Joshua R. DeVos, Erin Rottinghaus, Karidia Diallo, Duc B. Nguyen, Orji Bassey, Richard Ugbena, Nellie Wadonda-Kabondo, Michelle S. McConnell, Isaac Zulu, Benson Chilima, John Nkengasong, Chunfu Yang

published 23 Nov 2011

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A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

Laurie H. Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M. Enns, Lawrence Sweetman, Manfred Philipp, Sansan Lee, Mazhar Malik, Song-Yu Yang

published 22 Nov 2011

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A Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II

Jun Zhang, Jiucun Wang, Yanyun Ma, Wenqi Du, Siyang Zhao, Zuowei Zhang, Xiaojiao Zhang, Yue Liu, Huasheng Xiao, Hongyan Wang, Li Jin, Jie Liu

published 18 Nov 2011

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Can Linear Regression Modeling Help Clinicians in the Interpretation of Genotypic Resistance Data? An Application to Derive a Lopinavir-Score

Alessandro Cozzi-Lepri, Mattia C. F. Prosperi, Jesper Kjær, David Dunn, Roger Paredes, Caroline A. Sabin, Jens D. Lundgren, Andrew N. Phillips, Deenan Pillay, for the EuroSIDA and the United Kingdom CHIC/United Kingdom HDRD Studies

published 16 Nov 2011

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Molecular Evolution of HIV-1 CRF01_AE Env in Thai Patients

Samatchaya Boonchawalit, Duangrat Jullaksorn, Jiraporn Uttiyoung, Amara Yowang, Nongkran Krathong, Sununta Chautrakul, Akifumi Yamashita, Kazuyoshi Ikuta, Amornsak Roobsoong, Sangkom Kanitvittaya, Pathom Sawanpanyalert, Masanori Kameoka

published 02 Nov 2011

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Development and Inter-Laboratory Validation of Unlabeled Probe Melting Curve Analysis for Detection of JAK2 V617F Mutation in Polycythemia Vera

Zhiyuan Wu, Hong Yuan, Xinju Zhang, Weiwei Liu, Jinhua Xu, Wei Zhang, Ming Guan

published 20 Oct 2011

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Improving a Natural CaMKII Inhibitor by Random and Rational Design

Steven J. Coultrap, K. Ulrich Bayer

published 03 Oct 2011

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First-Step Mutations for Adaptation at Elevated Temperature Increase Capsid Stability in a Virus

Kuo Hao Lee, Craig R. Miller, Anna C. Nagel, Holly A. Wichman, Paul Joyce, F. Marty Ytreberg

published 29 Sep 2011

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Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, Veena Kalra, Madhuri Behari, Satinder Aneja, Surendra Kumar Bansal

published 22 Sep 2011

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Polymorphism in Gag Gene Cleavage Sites of HIV-1 Non-B Subtype and Virological Outcome of a First-Line Lopinavir/Ritonavir Single Drug Regimen

Jade Ghosn, Constance Delaugerre, Philippe Flandre, Julie Galimand, Isabelle Cohen-Codar, François Raffi, Jean-François Delfraissy, Christine Rouzioux, Marie-Laure Chaix

published 20 Sep 2011

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Screening for EGFR and KRAS Mutations in Endobronchial Ultrasound Derived Transbronchial Needle Aspirates in Non-Small Cell Lung Cancer Using COLD-PCR

George Santis, Roger Angell, Guillermina Nickless, Alison Quinn, Amanda Herbert, Paul Cane, James Spicer, Ronan Breen, Emma McLean, Khalid Tobal

published 19 Sep 2011

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