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Deletion mutation

Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification

Yang Zhang, Xianan Guo, Anhua Wu

published 20 Feb 2013

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Mitochondrial DNA Mutations in Mutator Mice Confer Respiration Defects and B-Cell Lymphoma Development

Takayuki Mito, Yoshiaki Kikkawa, Akinori Shimizu, Osamu Hashizume, Shun Katada, Hirotake Imanishi, Azusa Ota, Yukina Kato, Kazuto Nakada, Jun-Ichi Hayashi

published 13 Feb 2013

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Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels

Ting-Ting Lee, Xiao-Dong Zhang, Chao-Chin Chuang, Jing-Jer Chen, Yi-An Chen, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang

published 12 Feb 2013

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Promoter Hypermethylation of ARID1A Gene Is Responsible for Its Low mRNA Expression in Many Invasive Breast Cancers

Xianyu Zhang, Qian Sun, Ming Shan, Ming Niu, Tong Liu, Bingshu Xia, Xiaoshuan Liang, Wei Wei, Shanshan Sun, Youxue Zhang, Xiaolong Sean Liu, Qingbin Song, Yanmei Yang, Yuyan Ma, Yang Liu, Long Yang, Yanlv Ren, Guoqiang Zhang, Da Pang

published 21 Jan 2013

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Naturally Occurring Mutations in Large Surface Genes Related to Occult Infection of Hepatitis B Virus Genotype C

Hong Kim, Seoung-Ae Lee, Dong-Won Kim, Sueng-Hyun Lee, Bum-Joon Kim

published 18 Jan 2013

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HeurAA: Accurate and Fast Detection of Genetic Variations with a Novel Heuristic Amplicon Aligner Program for Next Generation Sequencing

Lőrinc S. Pongor, Ferenc Pintér, István Peták

published 18 Jan 2013

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A Reduction in Age-Enhanced Gluconeogenesis Extends Lifespan

Mayumi Hachinohe, Midori Yamane, Daiki Akazawa, Kazuhiro Ohsawa, Mayumi Ohno, Yuzu Terashita, Hiroshi Masumoto

published 14 Jan 2013

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Use of PB-Cre4 Mice for Mosaic Gene Deletion

Andreas Birbach

published 07 Jan 2013

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Familiar Hypopigmentation Syndrome in Sheep Associated with Homozygous Deletion of the Entire Endothelin Type-B Receptor Gene

Gesine Lühken, Katharina Fleck, Alfredo Pauciullo, Maike Huisinga, Georg Erhardt

published 31 Dec 2012

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Mutation Scanning Using MUT-MAP, a High-Throughput, Microfluidic Chip-Based, Multi-Analyte Panel

Rajesh Patel, Alison Tsan, Rachel Tam, Rupal Desai, Nancy Schoenbrunner, Thomas W. Myers, Keith Bauer, Edward Smith, Rajiv Raja

published 17 Dec 2012

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A Novel SERPINA1 Mutation Causing Serum Alpha₁-Antitrypsin Deficiency

Darren N. Saunders, Elizabeth A. Tindall, Robert F. Shearer, Jacquelyn Roberson, Amy Decker, Jean Amos Wilson, Vanessa M. Hayes

published 12 Dec 2012

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Deletional Protein Engineering Based on Stable Fold

Govindan Raghunathan, Nagasundarapandian Soundrarajan, Sriram Sokalingam, Hyungdon Yun, Sun-Gu Lee

published 11 Dec 2012

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Frequent Alteration of the Tumor Suppressor Gene APC in Sporadic Canine Colorectal Tumors

Lydia Youmans, Cynthia Taylor, Edwin Shin, Adrienne Harrell, Angela E. Ellis, Bernard Séguin, Xinglai Ji, Shaying Zhao

published 10 Dec 2012

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