Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Nonsense mutation

Novel mutations in Darier disease and association to self-reported disease severity

Ivone U. S. Leong, Alexander Stuckey, [ ... ], Jakob D. Wikstrom

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Clévia Rosset, Filippo Vairo, [ ... ], Patricia Ashton-Prolla

The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels

Pi-Lin Sung, Kuo-Chang Wen, [ ... ], Chi-Ying F. Huang

The rare nonsense mutation in p53 triggers alternative splicing to produce a protein capable of inducing apoptosis

Evgeny M. Makarov, Tatyana A. Shtam, [ ... ], Michael V. Filatov

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

Advertisement

Create a weekly email alert for: Nonsense mutation

You can change these options by clicking profile then "Alerts and Notifications"