Automated sequence screening of the entire dystrophin cdna in Duchenne dystrophy: Point mutation detection
Author:
Publisher
Wiley
Subject
Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics(clinical)
Reference52 articles.
1. The structural and functional diversity of dystrophin
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4. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
5. Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
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1. Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors;Journal of Genetic Counseling;2024-04-29
2. Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS‐Based Assay;Current Protocols;2023-02
3. Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report;BMC Medical Genetics;2020-11-11
4. Distrofia muscular de Becker con duplicación en el exón 5del gen DMD;Revista Repertorio de Medicina y Cirugía;2019-05-24
5. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations;PLOS ONE;2015-08-18
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