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Mutation detection

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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Variants of OTOF and PJVK Genes in Chinese Patients with Auditory Neuropathy Spectrum Disorder

Wang Jian, Fan Ying-ying, Wang Shu-juan, Liang Peng-Fei, Wang Jin-ling, Qiu Jian-hua

published 15 Sep 2011

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Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

Tom J. Vulliamy, Michael J. Kirwan, Richard Beswick, Upal Hossain, Charlotte Baqai, Anna Ratcliffe, Judith Marsh, Amanda Walne, Inderjeet Dokal

published 13 Sep 2011

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High Throughput Interrogation of Somatic Mutations in High Grade Serous Cancer of the Ovary

Ursula A. Matulonis, Michelle Hirsch, Emanuele Palescandolo, Eejung Kim, Joyce Liu, Paul van Hummelen, Laura MacConaill, Ronny Drapkin, William C. Hahn

published 08 Sep 2011

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Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

Macarena Ruiz-Ferrer, Ana Torroglosa, Rocío Núñez-Torres, Juan Carlos de Agustín, Guillermo Antiñolo, Salud Borrego

published 12 Aug 2011

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Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Huiwen Zhang, Jing Li, Xinshun Zhang, Yu Wang, Wenjuan Qiu, Jun Ye, Lianshu Han, Xiaolan Gao, Xuefan Gu

published 04 Aug 2011

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Optimal Codon Identities in Bacteria: Implications from the Conflicting Results of Two Different Methods

Bin Wang, Zhu-Qing Shao, Ying Xu, Jing Liu, Yuan Liu, Yue-Yu Hang, Jian-Qun Chen

published 28 Jul 2011

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