Associated Papers
Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.
Amr K et al.
Journal, Genetic Engineering & Biotechnology, 2024
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
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
Ling C et al.
Human Mutation, 2020
31705731 (PubMed )
Supplement: HUMU-41-668-s002.xlsx › Sheet1
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou J et al.
Bmc Bioinformatics, 2017
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 2016
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