Associated Papers
Dystrophin protein and mRNA analyses for the molecular genetic diagnosis of dystrophinopathy: A novel deep intronic DMD variant.
Xie Z et al.
Genes & Diseases, 2026
Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees.
Liu Y et al.
Genes & Genomics, 2025
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.
Xie Z et al.
Journal of Neurology, 2023
Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients.
Lu X et al.
Frontiers in Genetics, 2021
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