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Mutation

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Tommaso Pippucci, Antonia Parmeggiani, [ ... ], Valerio Carelli

Identification of Navβ1 Residues Involved in the Modulation of the Sodium Channel Nav1.4

Angel A. Islas, Alfredo Sánchez-Solano, [ ... ], Eduardo M. Salinas-Stefanon

Whole Exome Sequencing Identifies Novel Recurrently Mutated Genes in Patients with Splenic Marginal Zone Lymphoma

Marina Parry, Matthew J. J. Rose-Zerilli, [ ... ], Jonathan C. Strefford

Molecular Epidemiology of Nontypeable Haemophilus influenzae Causing Community-Acquired Pneumonia in Adults

Carmen Puig, Laura Calatayud, [ ... ], Carmen Ardanuy

Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma

Yan Wang, Yu Hong, [ ... ], Jian Huang

Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations

Ali Aydin, Baran A. Adsay, [ ... ], Boris A. Hoffmann

The bZIP Transcription Factor Fgap1 Mediates Oxidative Stress Response and Trichothecene Biosynthesis But Not Virulence in Fusarium graminearum

Mathilde Montibus, Christine Ducos, [ ... ], Christian Barreau

Whole-Exome Sequencing to Identify a Novel LMNA Gene Mutation Associated with Inherited Cardiac Conduction Disease

Chun-Chi Lai, Yung-Hsin Yeh, [ ... ], Lung-An Hsu

The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

Azra Fatima, Shao Kaifeng, [ ... ], Tomo Šarić

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, [ ... ], Lenka Fajkusová

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Richard S. Finkel, Kevin M. Flanigan, [ ... ], Stuart W. Peltz

ReacKnock: Identifying Reaction Deletion Strategies for Microbial Strain Optimization Based on Genome-Scale Metabolic Network

Zixiang Xu, Ping Zheng, Jibin Sun, Yanhe Ma

Applying Physics-Based Scoring to Calculate Free Energies of Binding for Single Amino Acid Mutations in Protein-Protein Complexes

Hege Beard, Anuradha Cholleti, [ ... ], Kathryn A. Loving

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