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Frameshift mutation

Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Carolina Minutolo, Alejandro D. Nadra, [ ... ], Liliana Dain

Nonsense Mediated Decay Resistant Mutations Are a Source of Expressed Mutant Proteins in Colon Cancer Cell Lines with Microsatellite Instability

David S. Williams, Matthew J. Bird, [ ... ], Antony W. Burgess

Genome Analysis of Treponema pallidum subsp. pallidum and subsp. pertenue Strains: Most of the Genetic Differences Are Localized in Six Regions

Lenka Mikalová, Michal Strouhal, [ ... ], David Šmajs

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

Bernd Timmermann, Martin Kerick, [ ... ], Michal R. Schweiger

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, [ ... ], Philippe Froguel

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation

Gisela Nogales-Gadea, Emma Mormeneo, [ ... ], Antoni L. Andreu

Mucoidy, Quorum Sensing, Mismatch Repair and Antibiotic Resistance in Pseudomonas aeruginosa from Cystic Fibrosis Chronic Airways Infections

Sofía Feliziani, Adela M. Luján, [ ... ], Andrea M. Smania

Mutational Profiling of Kinases in Human Tumours of Pancreatic Origin Identifies Candidate Cancer Genes in Ductal and Ampulla of Vater Carcinomas

Vincenzo Corbo, Rossana Ritelli, [ ... ], Aldo Scarpa

Competition of Escherichia coli DNA Polymerases I, II and III with DNA Pol IV in Stressed Cells

P. J. Hastings, Megan N. Hersh, [ ... ], Susan M. Rosenberg

The Retinitis Pigmentosa Mutation c.3444+1G>A in CNGB1 Results in Skipping of Exon 32

Elvir Becirovic, Kostadinka Nakova, [ ... ], Stylianos Michalakis

Activin Signaling in Microsatellite Stable Colon Cancers Is Disrupted by a Combination of Genetic and Epigenetic Mechanisms

Barbara Jung, Jessica Gomez, [ ... ], John M. Carethers

Simple Sequence Repeats and Mucoid Conversion: Biased mucA Mutagenesis in Mismatch Repair-Deficient Pseudomonas aeruginosa

Alejandro J. Moyano, Andrea M. Smania

Screening for Microsatellite Instability Identifies Frequent 3′-Untranslated Region Mutation of the RB1-Inducible Coiled-Coil 1 Gene in Colon Tumors

Bogdan C. Paun, Yulan Cheng, [ ... ], Yuriko Mori

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