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Deletion mutation

Novel ATPase Cu²⁺ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease

Shaojuan Gu, Huarong Yang, [ ... ], Hao Deng

A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome

Sven Zumhagen, Marieke W. Veldkamp, [ ... ], Eric Schulze-Bahr

Selecting Tyrosine Kinase Inhibitors for Gastrointestinal Stromal Tumor with Secondary KIT Activation-Loop Domain Mutations

Yuan-Shuo Hsueh, Chih-Lung Lin, [ ... ], Li-Tzong Chen

Evolution of a Higher Intracellular Oxidizing Environment in Caenorhabditis elegans under Relaxed Selection

Joanna Joyner-Matos, Kiley A. Hicks, [ ... ], Suzanne Estes

The Relative Timing of Mutations in a Breast Cancer Genome

Scott Newman, Karen D. Howarth, [ ... ], Paul A. W. Edwards

Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

Sébastien Fritz, Aurelien Capitan, [ ... ], Didier Boichard

Experimental Evolution Reveals Genome-Wide Spectrum and Dynamics of Mutations in the Rice Blast Fungus, Magnaporthe oryzae

Junhyun Jeon, Jaeyoung Choi, [ ... ], Yong-Hwan Lee

Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

Takehiko Naito, Shin-ya Nishio, [ ... ], Shin-ichi Usami

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

Sae-Won Han, Hwang-Phill Kim, [ ... ], Tae-You Kim

Tumor Necrosis Factor-α and Lymphotoxin-α Mediate Myocardial Ischemic Injury via TNF Receptor 1, but Are Cardioprotective When Activating TNF Receptor 2

Yanqing Zhang, Jianli Zhao, [ ... ], Yajing Wang

Identification of the Causative Gene for Simmental Arachnomelia Syndrome Using a Network-Based Disease Gene Prioritization Approach

Shihui Jiao, Qin Chu, [ ... ], Yuan Zhang

Activating Mutations in Protein Tyrosine Phosphatase Ptpn11 (Shp2) Enhance Reactive Oxygen Species Production That Contributes to Myeloproliferative Disorder

Dan Xu, Hong Zheng, Wen-Mei Yu, Cheng-Kui Qu

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K_ATP Gain of Channel Activity and Loss of Channel Expression

Yu-Wen Lin, Anlong Li, [ ... ], Colin G. Nichols

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