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Frameshift mutation

Detection of PIGO-Deficient Cells Using Proaerolysin: A Valuable Tool to Investigate Mechanisms of Mutagenesis in the DT40 Cell System

Jun Nakamura, Husamettin Gul, [ ... ], James A. Swenberg

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Katsuhiro Hosono, Chie Ishigami, [ ... ], Yoshihiro Hotta

Benzo[a]pyrene, Aflatoxine B₁ and Acetaldehyde Mutational Patterns in TP53 Gene Using a Functional Assay: Relevance to Human Cancer Aetiology

Vincent Paget, Mathilde Lechevrel, [ ... ], François Sichel

Genetic and Epigenetic Alterations of the NF2 Gene in Sporadic Vestibular Schwannomas

Jong Dae Lee, Tae Jun Kwon, Un-Kyung Kim, Won-Sang Lee

A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

Alexandre Bolze, Avinash Abhyankar, [ ... ], Jean-Laurent Casanova

Wolfram Syndrome: New Mutations, Different Phenotype

Concetta Aloi, Alessandro Salina, [ ... ], Giuseppe d'Annunzio

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, [ ... ], Yi-Chung Lee

Runx1 Loss Minimally Impacts Long-Term Hematopoietic Stem Cells

Xiongwei Cai, Justin J. Gaudet, [ ... ], Nancy A. Speck

Genetic Complexity of Fusidic Acid-Resistant Small Colony Variants (SCV) in Staphylococcus aureus

Jonas Lannergård, Sha Cao, [ ... ], Diarmaid Hughes

An MSI Tumor Specific Frameshift Mutation in a Coding Microsatellite of MSH3 Encodes for HLA-A0201-Restricted CD8⁺ Cytotoxic T Cell Epitopes

Yvette Garbe, Claudia Maletzki, Michael Linnebacher

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

Bruno Francou, Jérôme Bouligand, [ ... ], Jacques Young

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, [ ... ], Anu Bashamboo

Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, [ ... ], Surendra Kumar Bansal

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