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 >...

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Detalles Bibliográficos
Autores principales: Meregalli, Mirella, Maciotta, Simona, Angeloni, Valentina, Torrente, Yvan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
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

Internet

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

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