You are on the new improved site. You can view the old site in view-only mode here until June 27, 2026

Filter Results

Search all journals

Enter search terms…

Advanced search

/

About

About Sage
About Sage Journals
Privacy Policy
Terms of Use
Contact Us
Help

Information for

Authors
Editors
Librarians
Researchers
Reviewers
Frequently asked questions

Copyright © 2026 by Sage Publications.京ICP备09090397号-11

Search results

Search results page

Articles (237)

Journals (0)

1-10 of 237 results for nonsense mutation

Sort by:

Relevance

Select all

Select all

Sort by:

Relevance

Select article: A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene

Open access

Case report

First published 2022

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene

Xing-Chuan Li, Song Wang, Jia-Rui Zhu [...]

Sage Open Medical Case Reports

Select article: A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report

Open access

Case report

First published 2019

A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report

Feras M Ghazawi, Etienne Saint-Cyr Proulx, Fatemeh Jafarian

Sage Open Medical Case Reports

Select article: Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations

Open access

Research article

First published 2019-08

Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations

Lulu Huang, Mariam Aghajan, Tianna Quesenberry [...]

Nucleic Acid Therapeutics

Select article: Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

Retricted access

Other

First published 2010-9

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

Richard S. Finkel

Journal of Child Neurology

Select article: The clinical spectrum of a nonsense mutation in KAT6A : a case report

Open access

Case report

First published 2022-12

The clinical spectrum of a nonsense mutation in KAT6A : a case report

Dongbo Wang, Jun He, Xueyi Li [...]

Journal of International Medical Research

Select article: Non-syndromic Tooth Agenesis Associated with a Nonsense Mutation in Ectodysplasin-A (EDA)

Retricted access

Research article

First published 2013-6

Non-syndromic Tooth Agenesis Associated with a Nonsense Mutation in Ectodysplasin-A (EDA)

T. Nikopensius, T. Annilo, T. Jagomägi [...]

Journal of Dental Research

Select article: Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene

Retricted access

Research article

First published 2022-7

Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene

Panpan Zhai, Weigang Lv, Xiaoqing Yang [...]

Pediatric and Developmental Pathology

Select article: Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy

Free access

Case report

First published 2019

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy

Manu Jokela, Peter Baumann, Sanna Huovinen [...]

Journal of Neuromuscular Diseases

Select article: Identification of nonsense mutations in hepatitis B virus S gene in patients with hepatocellular carcinoma developed after lamivudine therapy

Free access

Research article

First published 2009-2

Identification of nonsense mutations in hepatitis B virus S gene in patients with hepatocellular carcinoma developed after lamivudine therapy

Ming-Wei Lai, Shiu-Feng Huang, Chao-Wei Hsu [...]

Antiviral Therapy

Select article: A c.1363C>T (p.R455X) Nonsense Mutation of RB1 Gene in a Southern Chinese Retinoblastoma Pedigree

Retricted access

Research article

First published 2010-04

A c.1363C>T (p.R455X) Nonsense Mutation of RB1 Gene in a Southern Chinese Retinoblastoma Pedigree

Chun-Yue Chen, Chen-Ming Xu, Zhen-Fang Du [...]

Genetic Testing and Molecular Biomarkers

1
2
3
•••
24
10 / page

Article type

Publication date

Subjects

Access