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Nonsense mutation

Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Abdelaziz Tlili, Abdullah Fahd Al Mutery, [ ... ], Khalid Bajou

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay

Aneta Ścieżyńska, Ewelina Ruszkowska, [ ... ], Monika Ołdak

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

Ebun Omoyinmi, Ariane Standing, [ ... ], Paul A. Brogan

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Xianli Zhang, Yang Liu, [ ... ], Shuguo Zheng

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy

James W. McNamara, Amy Li, [ ... ], Cristobal G. dos Remedios

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, [ ... ], Poh San Lai

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, [ ... ], Lu Jiang

Specific expression and function of the A-type cytochrome c oxidase under starvation conditions in Pseudomonas aeruginosa

Tatsuya Osamura, Takuro Kawakami, [ ... ], Hiroyuki Arai

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

Jian-Hong Liu, Xiu-Xiu Wei, [ ... ], Xiao-Jun Li

Lack of significant associations with early career performance suggest no link between the DMRT3 “Gait Keeper” mutation and precocity in Coldblooded trotters

Kim Jäderkvist Fegraeus, Chameli Lawrence, [ ... ], Brandon D. Velie

A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies

Ryan D. Geraets, Logan M. Langin, [ ... ], David A. Pearce

Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei

Lilli Saarinen, Pirjo Nummela, [ ... ], Ari Ristimäki

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Meng Yu, Yiming Zheng, [ ... ], Zhaoxia Wang

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