Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene. [electronic resource]
Producer: 20200220Description: 753-765 p. digitalISSN:- 1862-1783
- Alternative Splicing
- Binding Sites
- Biopsy
- Creatine Kinase -- blood
- Exons
- Family Health
- Female
- Gene Deletion
- Gene Duplication
- Genetic Variation
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Mothers
- Muscular Dystrophy, Duchenne -- genetics
- Phenotype
- Polymorphism, Single Nucleotide
- Pregnancy
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Publication Type: Journal Article
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