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Frameshift mutation

TP53 alterations in primary and secondary Sézary syndrome: A diagnostic tool for the assessment of malignancy in patients with erythroderma

Audrey Gros, Elodie Laharanne, [ ... ], Jean-Philippe Merlio

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison J. Cox, Benjamin W. Darbro, [ ... ], Polly J. Ferguson

Conventional colon adenomas harbor various disturbances in microsatellite stability and contain micro-serrated foci with microsatellite instability

Piotr Lewitowicz, Stanislaw Gluszek, [ ... ], Anna Nasierowska-Guttmejer

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Caroline Van Cauwenbergh, Frauke Coppieters, [ ... ], Elfride De Baere

A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Wufang Fan, Bei Wang, [ ... ], Lin Li

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Marta de Castro-Miró, Raul Tonda, [ ... ], Roser Gonzàlez-Duarte

Genomic Profile of Chronic Lymphocytic Leukemia in Korea Identified by Targeted Sequencing

Jung-Ah Kim, Byungjin Hwang, [ ... ], Dong Soon Lee

Surveillance of Helicobacter pylori Antibiotic Susceptibility in Indonesia: Different Resistance Types among Regions and with Novel Genetic Mutations

Muhammad Miftahussurur, Ari Fahrial Syam, [ ... ], Yoshio Yamaoka

Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese

Jing Kong, Ou Wang, [ ... ], Xiaoping Xing

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita, Eiji Higashihara, [ ... ], Kikuo Nutahara

Deep Brain Photoreceptor (val-opsin) Gene Knockout Using CRISPR/Cas Affects Chorion Formation and Embryonic Hatching in the Zebrafish

Chong Yee Hang, Shogo Moriya, Satoshi Ogawa, Ishwar S. Parhar

Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations

Shuang Liu, Weimin Zhang, [ ... ], Zhengqing Qiu

Lamivudine/Adefovir Treatment Increases the Rate of Spontaneous Mutation of Hepatitis B Virus in Patients

Marianoel Pereira-Gómez, Juan-Vicente Bou, Iván Andreu, Rafael Sanjuán

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