A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon
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Publisher
Elsevier BV
Reference14 articles.
1. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis;Crisafulli;Orphanet J Rare Dis.,2020
2. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene;Deburgrave;Hum Mutat.,2007
3. mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies;Falzarano;Sci Rep.,2023
4. EMQN best practice guidelines for genetic testing in dystrophinopathies;Fratter;Eur J Hum Genet.,2020
5. Premature termination codons in the DMD gene cause reduced local mRNA synthesis;García-Rodríguez;Proc Natl Acad Sci U S a.,2020
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