Associated Papers
Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES.
Mathur P et al.
Global Medical Genetics, 2025
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Zhao L et al.
Orphanet Journal of Rare Diseases, 2024
39182149 (PubMed )
Supplement: 13023_2024_3217_MOESM2_ESM.docx
Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.
De Palma FDE et al.
Diagnostics (basel, Switzerland), 2021
Efficient precise in vivo base editing in adult dystrophic mice.
Xu L et al.
Nature Communications, 2021
34140489 (PubMed )
Supplement: 41467_2021_23996_MOESM1_ESM.pdf
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
Nagabushana D et al.
Journal of Neuromuscular Diseases, 2021
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
Torella A et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines.
Tay SK et al.
Journal of Child Neurology, 2006
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