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

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

Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis

Misuzu Ueki, Haruo Takeshita, [ ... ], Toshihiro Yasuda

Combining clinical and genomics queries using i2b2 – Three methods

Shawn N. Murphy, Paul Avillach, [ ... ], Isaac S. Kohane

Mechanism for generation of left isomerism in Ccdc40 mutant embryos

Kelsey F. Sugrue, Irene E. Zohn

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

Wen-Chen Liang, Xia Tian, [ ... ], Yuh-Jyh Jong

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

Tumor-Derived Suppressor of Fused Mutations Reveal Hedgehog Pathway Interactions

Nicole M. Urman, Amar Mirza, [ ... ], Anthony E. Oro

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

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Cécile Méjécase, Caroline Laurent-Coriat, [ ... ], Christina Zeitz

Advertisement

Create a weekly email alert for: Nonsense mutation

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