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Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26
BACKGROUND: The dystrophin gene is the one of the largest described in human beings and mutations associated to this gene are responsible for Duchenne or Becker muscular dystrophies. CASE PRESENTATION: Here we describe a nucleotide substitution in the acceptor splice site of intron 26 (c.3604-1G >...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982232/ https://www.ncbi.nlm.nih.gov/pubmed/27515321 http://dx.doi.org/10.1186/s12881-016-0318-y |