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Frameshift mutation

Structural Integrity of the Greek Key Motif in βγ-Crystallins Is Vital for Central Eye Lens Transparency

Venkata Pulla Rao Vendra, Garima Agarwal, Sushil Chandani, Venu Talla, Narayanaswamy Srinivasan, Dorairajan Balasubramanian

published 06 Aug 2013

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Mechanisms and Fitness Costs of Resistance to Antimicrobial Peptides LL-37, CNY100HL and Wheat Germ Histones

Hava Lofton, Maria Pränting, Elisabeth Thulin, Dan I. Andersson

published 23 Jul 2013

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Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

Ana Blanco, Miguel de la Hoya, Ana Osorio, Orland Diez, María Dolores Miramar, Mar Infante, Cristina Martinez-Bouzas, Asunción Torres, Adriana Lasa, Gemma Llort, Joan Brunet, Begoña Graña, Pedro Perez Segura, María José Garcia, Sara Gutiérrez-Enríquez, Ángel Carracedo, María-Isabel Tejada, Eladio A. Velasco, María-Teresa Calvo, Judith Balmaña, Javier Benitez, Trinidad Caldés, Ana Vega

published 23 Jul 2013

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Structural Analysis of Mitochondrial Mutations Reveals a Role for Bigenomic Protein Interactions in Human Disease

Rhiannon E. Lloyd, John E. McGeehan

published 09 Jul 2013

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Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome

Mark Clendenning, Joanne P. Young, Michael D. Walsh, Sonja Woodall, Julie Arnold, Mark Jenkins, Aung Ko Win, John L. Hopper, Kevin Sweet, Steven Gallinger, Christophe Rosty, Susan Parry, Daniel D. Buchanan

published 21 Jun 2013

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Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Marta Corton, Koji M. Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta

published 14 Jun 2013

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Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

Jian Wang, Tingting Yu, Lei Yin, Jing Li, Li Yu, Ye Shen, Yongguo Yu, Yongnian Shen, Qihua Fu

published 06 Jun 2013

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Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Xiu-Feng Huang, Ping Xiang, Jie Chen, Dong-Jun Xing, Na Huang, Qingjie Min, Feng Gu, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin

published 30 May 2013

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Identification of a KEAP1 Germline Mutation in a Family with Multinodular Goitre

Risa Teshiba, Tatsuro Tajiri, Kenzo Sumitomo, Kouji Masumoto, Tomoaki Taguchi, Ken Yamamoto

published 28 May 2013

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Targeted Sequencing of Cancer-Related Genes in Colorectal Cancer Using Next-Generation Sequencing

Sae-Won Han, Hwang-Phill Kim, Jong-Yeon Shin, Eun-Goo Jeong, Won-Chul Lee, Kyung-Hun Lee, Jae-Kyung Won, Tae-Yong Kim, Do-Youn Oh, Seock-Ah Im, Yung-Jue Bang, Seung-Yong Jeong, Kyu Joo Park, Jae-Gahb Park, Gyeong Hoon Kang, Jeong-Sun Seo, Jong-Il Kim, Tae-You Kim

published 21 May 2013

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Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers

Wei Yin, Xiaoqian Ye, Huali Fan, Zhuan Bian

published 23 Apr 2013

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DNA-Bound Platinum Is the Major Determinant of Cisplatin Sensitivity in Head and Neck Squamous Carcinoma Cells

Sanne R. Martens-de Kemp, Simone U. Dalm, Fiona M. J. Wijnolts, Arjen Brink, Richard J. Honeywell, Godefridus J. Peters, Boudewijn J. M. Braakhuis, Ruud H. Brakenhoff

published 17 Apr 2013

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EZH2 Mutations Are Related to Low Blast Percentage in Bone Marrow and -7/del(7q) in De Novo Acute Myeloid Leukemia

Xiuli Wang, Haiping Dai, Qian Wang, Qinrong Wang, Yang Xu, Ying Wang, Aining Sun, Jia Ruan, Suning Chen, Depei Wu

published 17 Apr 2013

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