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Nonsense mutation

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Liting Li, Jibin Dong, Xiaohong Wang, Hongmei Guo, Huijun Wang, Jing Zhao, Yiling Qiu, Kuerbanjiang Abuduxikuer, Jianshe Wang

published 15 Jun 2015

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Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing

Claudia Vollbrecht, Fabian Dominik Mairinger, Ulrike Koitzsch, Martin Peifer, Katharina Koenig, Lukas Carl Heukamp, Giuliano Crispatzu, Laura Wilden, Karl-Anton Kreuzer, Michael Hallek, Margarete Odenthal, Carmen Diana Herling, Reinhard Buettner

published 08 Jun 2015

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Serotype M3 and M28 Group A Streptococci Have Distinct Capacities to Evade Neutrophil and TNF-α Responses and to Invade Soft Tissues

Zachary W. Stetzner, Dengfeng Li, Wenchao Feng, Mengyao Liu, Guanghui Liu, James Wiley, Benfang Lei

published 05 Jun 2015

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GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

Jing Zheng, Zhengbiao Ying, Zhaoyang Cai, Dongmei Sun, Zheyun He, Yinglong Gao, Ting Zhang, Yi Zhu, Ye Chen, Min-Xin Guan

published 04 Jun 2015

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Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

Simon L. Girard, Patrick A. Dion, Cynthia V. Bourassa, Steve Geoffroy, Pamela Lachance-Touchette, Amina Barhdadi, Mathieu Langlois, Ridha Joober, Marie-Odile Krebs, Marie-Pierre Dubé, Guy A. Rouleau

published 03 Jun 2015

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Complete Genome Sequence of ER2796, a DNA Methyltransferase-Deficient Strain of Escherichia coli K-12

Brian P. Anton, Emmanuel F. Mongodin, Sonia Agrawal, Alexey Fomenkov, Devon R. Byrd, Richard J. Roberts, Elisabeth A. Raleigh

published 26 May 2015

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Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Fei Liu, Jiongjiong Hu, Wenjun Xia, Lili Hao, Jing Ma, Duan Ma, Zhaoxin Ma

published 11 May 2015

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A Post-Developmental Genetic Screen for Zebrafish Models of Inherited Liver Disease

Seok-Hyung Kim, Shu-Yu Wu, Jeong-In Baek, Soo Young Choi, Yanhui Su, Charles R. Flynn, Joshua T. Gamse, Kevin C. Ess, Gary Hardiman, Joshua H. Lipschutz, Naji N. Abumrad, Don C. Rockey

published 07 May 2015

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PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome

Cui-Mei Zhao, Lu-Ying Peng, Li Li, Xing-Yuan Liu, Juan Wang, Xian-Ling Zhang, Fang Yuan, Ruo-Gu Li, Xing-Biao Qiu, Yi-Qing Yang

published 20 Apr 2015

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Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome

Adam G. W. Matthews, Christine E. Briggs, Keiichi Yamanaka, Trudy N. Small, Jana L. Mooster, Francisco A. Bonilla, Marjorie A. Oettinger, Manish J. Butte

published 07 Apr 2015

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Distinct Mutations Led to Inactivation of Type 1 Fimbriae Expression in Shigella spp.

Verónica Bravo, Andrea Puhar, Philippe Sansonetti, Claude Parsot, Cecilia S. Toro

published 26 Mar 2015

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A Novel Nonsense Mutation in the MIP Gene Linked to Congenital Posterior Polar Cataracts in a Chinese Family

Zixun Song, Lianqing Wang, Yaping Liu, Wei Xiao

published 24 Mar 2015

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Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, Rym Bechraoui, Jihène Marrakchi, Jean-Pierre Hardelin, Malek Louha, Leila Largueche, Salim Ben Yahia, Moncef Kheirallah, Leila Elmatri, Ghazi Besbes, Sonia Abdelhak, Christine Petit

published 23 Mar 2015

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