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Substitution mutation

Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals

Suprovath Kumar Sarker, Md Tarikul Islam, Grace Eckhoff, Mohammad Amir Hossain, Syeda Kashfi Qadri, A. K. M. Muraduzzaman, Golam Sarower Bhuyan, Mohammod Shahidullah, Mohammad Abdul Mannan, Sarabon Tahura, Manzoor Hussain, Shahida Akhter, Nazmun Nahar, Tahmina Shirin, Firdausi Qadri, Kaiissar Mannoor

published 23 Nov 2016

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CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site

Zarina Yelskaya, Ruben Bacares, Erin Salo-Mullen, Joshua Somar, Deborah A. Lehrich, Grace-Ann Fasaye, Daniel G. Coit, Laura H. Tang, Zsofia K. Stadler, Liying Zhang

published 23 Nov 2016

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita, Eiji Higashihara, Haruna Kawano, Ryo Higashiyama, Daisuke Koga, Takafumi Fukui, Nobuhisa Gondo, Takehiko Oka, Kozo Kawahara, Krisztina Rigo, Tim Hague, Kiyonori Katsuragi, Kimiyoshi Sudo, Masahiko Takeshi, Shigeo Horie, Kikuo Nutahara

published 11 Nov 2016

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Pre-Existing HCV Variants Resistant to DAAs and Their Sensitivity to PegIFN/RBV in Chinese HCV Genotype 1b Patients

Yu Zhang, Ying Cao, Renwen Zhang, Xiaxia Zhang, Haiying Lu, Chihong Wu, Na Huo, Xiaoyuan Xu

published 03 Nov 2016

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Step-Wise Increase in Tigecycline Resistance in Klebsiella pneumoniae Associated with Mutations in ramR, lon and rpsJ

Li Fang, Qiong Chen, Keren Shi, Xi Li, Qiucheng Shi, Fang He, Jiancang Zhou, Yunsong Yu, Xiaoting Hua

published 20 Oct 2016

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Lethal Mutagenesis of Hepatitis C Virus Induced by Favipiravir

Ana I. de Ávila, Isabel Gallego, Maria Eugenia Soria, Josep Gregori, Josep Quer, Juan Ignacio Esteban, Charles M. Rice, Esteban Domingo, Celia Perales

published 18 Oct 2016

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A Natural Mutation in Helix 5 of the Ligand Binding Domain of Glucocorticoid Receptor Enhances Receptor-Ligand Interaction

Henry Reyer, Siriluck Ponsuksili, Ellen Kanitz, Ralf Pöhland, Klaus Wimmers, Eduard Murani

published 13 Oct 2016

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Identification of β Clamp-DNA Interaction Regions That Impair the Ability of E. coli to Tolerate Specific Classes of DNA Damage

Michael T. Nanfara, Vignesh M. P. Babu, Mohamed A. Ghazy, Mark D. Sutton

published 29 Sep 2016

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The Panitumumab EGFR Complex Reveals a Binding Mechanism That Overcomes Cetuximab Induced Resistance

E. Allen Sickmier, Robert J. M. Kurzeja, Klaus Michelsen, Mukta Vazir, Evelyn Yang, Andrew S. Tasker

published 22 Sep 2016

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Lamivudine/Adefovir Treatment Increases the Rate of Spontaneous Mutation of Hepatitis B Virus in Patients

Marianoel Pereira-Gómez, Juan-Vicente Bou, Iván Andreu, Rafael Sanjuán

published 20 Sep 2016

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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

published 14 Sep 2016

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Parallel Mutations Result in a Wide Range of Cooperation and Community Consequences in a Two-Species Bacterial Consortium

Sarah M. Douglas, Lon M. Chubiz, William R. Harcombe, F. Marty Ytreberg, Christopher J. Marx

published 12 Sep 2016

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, Zhaohui Wang, Hong Ren, Pingyan Shen, Weiming Wang, Yaowen Xu, Liyan Ni, Xialian Yu, Xiaonong Chen, Wen Zhang, Li Yang, Xiao Li, Jing Xu, Nan Chen

published 25 Aug 2016

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