Associated Papers
2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.
Bidou L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
35994666 (PubMed )
Supplement: pnas.2122004119.sapp.pdf
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.
Wang D et al.
Frontiers in Pharmacology, 2019
Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.
Yamamoto T et al.
Circulation. Genomic and Precision Medicine, 2018
29874176 (PubMed )
Supplement: hcg-11-e001782-s001.pdf
Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).
Moat SJ et al.
European Journal of Human Genetics : Ejhg, 2013
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.
Finkel RS et al.
Plos One, 2013
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
Takeshima Y et al.
Journal of Human Genetics, 2010
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