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Frameshift mutation

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan-Mateu, Lidia González-Quereda, [ ... ], Pia Gallano

Additional Routes to Staphylococcus aureus Daptomycin Resistance as Revealed by Comparative Genome Sequencing, Transcriptional Profiling, and Phenotypic Studies

Yang Song, Aileen Rubio, [ ... ], Brian J. Wilkinson

Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification

Yang Zhang, Xianan Guo, Anhua Wu

Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 Gene

Matija Rijavec, Peter Korošec, [ ... ], Mitja Košnik

Only Missense Mutations Affecting the DNA Binding Domain of P53 Influence Outcomes in Patients with Breast Carcinoma

Frédérique Végran, Magali Rebucci, [ ... ], Sarab Lizard-Nacol

The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

A. Hunter Shain, Jonathan R. Pollack

Promoter Hypermethylation of ARID1A Gene Is Responsible for Its Low mRNA Expression in Many Invasive Breast Cancers

Xianyu Zhang, Qian Sun, [ ... ], Da Pang

Mutations in the Hedgehog Pathway Genes SMO and PTCH1 in Human Gastric Tumors

Xi-De Wang, Hector Inzunza, [ ... ], John Cogswell

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

Isabelle Perrault, Alejandro Estrada-Cuzcano, [ ... ], Jean-Michel Rozet

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, [ ... ], Ana María Oller de Ramírez

Genome-Wide Survey of Pseudogenes in 80 Fully Re-sequenced Arabidopsis thaliana Accessions

Long Wang, Weina Si, [ ... ], Sihai Yang

Multiple Mechanisms Contribute to Leakiness of a Frameshift Mutation in Canine Cone-Rod Dystrophy

Keiko Miyadera, Ian Brierley, [ ... ], David R. Sargan

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

Samer Khateb, Lina Zelinger, [ ... ], Dror Sharon

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