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Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype
The myotonic dystrophies (DMs) are the most common inherited muscular disorders in adults. In most of the cases, the disease is caused by (CTG)(n)/(CCTG)(n) repeat expansions (EXPs) in non-coding regions of the genes DMPK (dystrophia myotonica-protein kinase) and CNBP (CCHC-type zinc-finger nucleic...
Enregistré dans:
| Publié dans: | Eur J Hum Genet |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5027686/ https://ncbi.nlm.nih.gov/pubmed/27222292 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.41 |
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