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

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, [ ... ], Carmen Ayuso

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency

Neng-Li Wang, Li-Ting Li, [ ... ], Jian-She Wang

Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators

Wei Wang, Jeong S. Hong, [ ... ], Kevin L. Kirk

Structure of the Intermediate Filament-Binding Region of Desmoplakin

Hyunook Kang, Thomas M. Weiss, [ ... ], Hee-Jung Choi

FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

Avani Solanki, Purvi Mohanty, [ ... ], Babu Rao Vundinti

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies

Zhi Yon Charles Toh, May Thandar Aung-Htut, [ ... ], Steve D. Wilton

A20 Mutation Is Not a Prognostic Marker for Activated B-Cell-Like Diffuse Large B-Cell Lymphoma

Hong Cen, Xiaohong Tan, Baoping Guo

Prevalence of Titin Truncating Variants in General Population

Oyediran Akinrinade, Juha W. Koskenvuo, Tero-Pekka Alastalo

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

Isabella Giovannoni, Francesco Callea, [ ... ], Paola Francalanci

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer

Eleonor Olsson, Christof Winter, [ ... ], Lao H. Saal

Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

Michael Vanlandewijck, Thibaud Lebouvier, [ ... ], Christer Betsholtz

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome

Toshiya Okumura, Kengo Furuichi, [ ... ], Takashi Wada

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, [ ... ], Hiroyuki Harada

Advertisement

Create a weekly email alert for: Nonsense mutation

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