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Frameshift mutation

Characterization of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione resistance in pyomelanogenic Pseudomonas aeruginosa DKN343

Laura M. Ketelboeter, Sonia L. Bardy

published 01 Jun 2017

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A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang

published 25 May 2017

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Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li

published 18 May 2017

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat

published 04 May 2017

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New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort

published 01 May 2017

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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Meng Yu, Yiming Zheng, Suqin Jin, Qiang Gang, Qingqing Wang, Peng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang

published 12 Apr 2017

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Investigation of mutations in the HBB gene using the 1,000 genomes database

Tânia Carlice-dos-Reis, Jaime Viana, Fabiano Cordeiro Moreira, Greice de Lemos Cardoso, João Guerreiro, Sidney Santos, Ândrea Ribeiro-dos-Santos

published 05 Apr 2017

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Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes

Bhavi P. Modi, Maria E. Teves, Laurel N. Pearson, Hardik I. Parikh, Piya Chaemsaithong, Nihar U. Sheth, Timothy P. York, Roberto Romero, Jerome F. Strauss III

published 27 Mar 2017

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Mechanisms of glycosylase induced genomic instability

Daniel E. Eyler, Kylie A. Burnham, Thomas E. Wilson, Patrick J. O’Brien

published 23 Mar 2017

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A spontaneous mutation in kdsD, a biosynthesis gene for 3 Deoxy-_D-manno-Octulosonic Acid, occurred in a ciprofloxacin resistant strain of Francisella tularensis and caused a high level of attenuation in murine models of tularemia

Taylor Chance, Jennifer Chua, Ronald G. Toothman, Jason T. Ladner, Jonathan E. Nuss, Jo Lynne Raymond, Fabrice V. Biot, Samandra Demons, Lynda Miller, Stephanie Halasohoris, Sherry Mou, Galina Koroleva, Sean Lovett, Gustavo Palacios, Nicholas J. Vietri, Patricia L. Worsham, Christopher K. Cote, Todd M. Kijek, Joel A. Bozue

published 22 Mar 2017

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TP53 alterations in primary and secondary Sézary syndrome: A diagnostic tool for the assessment of malignancy in patients with erythroderma

Audrey Gros, Elodie Laharanne, Marie Vergier, Martina Prochazkova-Carlotti, Anne Pham-Ledard, Thomas Bandres, Sandrine Poglio, Sabine Berhouet, Béatrice Vergier, Jean-Philippe Vial, Edith Chevret, Marie Beylot-Barry, Jean-Philippe Merlio

published 16 Mar 2017

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Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison J. Cox, Benjamin W. Darbro, Ronald M. Laxer, Gabriel Velez, Xinyu Bing, Alexis L. Finer, Albert Erives, Vinit B. Mahajan, Alexander G. Bassuk, Polly J. Ferguson

published 16 Mar 2017

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Conventional colon adenomas harbor various disturbances in microsatellite stability and contain micro-serrated foci with microsatellite instability

Piotr Lewitowicz, Stanislaw Gluszek, Dorota Koziel, Agata Horecka-Lewitowicz, Magdalena Chrapek, Przemyslaw Wolak, Justyna Klusek, Anna Nasierowska-Guttmejer

published 24 Feb 2017

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