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Mutation databases

Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia

Hua Yue, Jin-bo Yu, Jin-wei He, Zeng Zhang, Wen-zhen Fu, Hao Zhang, Chun Wang, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Yu-juan Liu, Zhen-Lin Zhang

published 16 May 2014

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Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

Xiao Zhang, Xianglian Ge, Wei Shi, Ping Huang, Qingjie Min, Minghan Li, Xinping Yu, Yaming Wu, Guangyu Zhao, Yi Tong, Zi-Bing Jin, Jia Qu, Feng Gu

published 24 Apr 2014

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Risk of Budd-Chiari Syndrome Associated with Factor V Leiden and G20210A Prothrombin Mutation: A Meta-Analysis

Peijin Zhang, Jing Zhang, Guixiang Sun, Xiuyin Gao, Hui Wang, Wenjun Yan, Hao Xu, Maoheng Zu, He Ma, Wei Wang, Zhaojun Lu

published 22 Apr 2014

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Clinical Characteristics and Immunogenetics of BCGosis/BCGitis in Chinese Children: A 6 Year Follow-Up Study

Wenjing Ying, Jinqiao Sun, Danru Liu, Xiaoying Hui, Yeheng Yu, Jingyi Wang, Xiaochuan Wang

published 10 Apr 2014

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Positioning of APOBEC3G/F Mutational Hotspots in the Human Immunodeficiency Virus Genome Favors Reduced Recognition by CD8⁺ T Cells

Mahdis Monajemi, Claire F. Woodworth, Katrin Zipperlen, Maureen Gallant, Michael D. Grant, Mani Larijani

published 10 Apr 2014

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Systematic Study on Genetic and Epimutational Profile of a Cohort of Amsterdam Criteria-Defined Lynch Syndrome in Singapore

Yanqun Liu, Min Hoe Chew, Xue Wei Goh, Soo Yong Tan, Carol Tien Tau Loi, Yuen Ming Tan, Hai Yang Law, Poh Koon Koh, Choong Leong Tang

published 07 Apr 2014

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Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu, Kangmo Lu, Guanghui Yang, Zhong Cen, Li Yu, Lin Lin, Jing Hao, Zhigang Yang, Jiabao Peng, Shujian Cui, Jian Huang

published 04 Apr 2014

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The Geogenomic Mutational Atlas of Pathogens (GoMAP) Web System

David P. Sargeant, Michael W. Hedden, Sandeep Deverasetty, Christy L. Strong, Izua J. Alaniz, Alexandria N. Bartlett, Nicholas R. Brandon, Steven B. Brooks, Frederick A. Brown, Flaviona Bufi, Monika Chakarova, Roxanne P. David, Karlyn M. Dobritch, Horacio P. Guerra, Kelvy S. Levit, Kiran R. Mathew, Ray Matti, Dorothea Q. Maza, Sabyasachy Mistry, Nemanja Novakovic, Austin Pomerantz, Timothy F. Rafalski, Viraj Rathnayake, Noura Rezapour, Christian A. Ross, Steve G. Schooler, Sarah Songao, Sean L. Tuggle, Helen J. Wing, Sandy Yousif, Martin R. Schiller

published 27 Mar 2014

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Different Frequencies of Drug Resistance Mutations among HIV-1 Subtypes Circulating in China: A Comprehensive Study

Hongshuai Sui, Tao Gui, Lei Jia, Wei Guo, Jingwan Han, Yongjian Liu, Zuoyi Bao, Hanping Li, Jingyun Li, Lin Li

published 24 Mar 2014

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Next Generation MUT-MAP, a High-Sensitivity High-Throughput Microfluidics Chip-Based Mutation Analysis Panel

Erica B. Schleifman, Rachel Tam, Rajesh Patel, Alison Tsan, Teiko Sumiyoshi, Ling Fu, Rupal Desai, Nancy Schoenbrunner, Thomas W. Myers, Keith Bauer, Edward Smith, Rajiv Raja

published 21 Mar 2014

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Clinically Relevant Transmitted Drug Resistance to First Line Antiretroviral Drugs and Implications for Recommendations

Susana Monge, Vicente Guillot, Marta Alvarez, Natalia Chueca, Natalia Stella, Alejandro Peña, Rafael Delgado, Juan Córdoba, Antonio Aguilera, Carmen Vidal, Federico García, CoRIS

published 17 Mar 2014

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Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease

Yu Zhou, Siyu Tao, Hui Chen, Lulin Huang, Xiong Zhu, Youping Li, Zhili Wang, He Lin, Fang Hao, Zhenglin Yang, Liya Wang, Xianjun Zhu

published 14 Mar 2014

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CFTR Mutations Spectrum and the Efficiency of Molecular Diagnostics in Polish Cystic Fibrosis Patients

Ewa Ziętkiewicz, Ewa Rutkiewicz, Andrzej Pogorzelski, Barbara Klimek, Katarzyna Voelkel, Michał Witt

published 26 Feb 2014

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