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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 >...
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| Udgivet i: | BMC Med Genet |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4982232/ https://ncbi.nlm.nih.gov/pubmed/27515321 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0318-y |
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