Caricamento...
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...
Salvato in:
| Pubblicato in: | Eur J Hum Genet |
|---|---|
| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2016
|
| Soggetti: | |
| Accesso online: | 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 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|