De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a multisystem disorder, caused by expansion of a CTG trinucleotide repeat in the 3′-untranslated region of the DMPK gene. The repeat expansion is somatically unstable and tends to increase in length with time, contributing to disease progression. In some individual...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Cumming, Sarah A., Hamilton, Mark J., Robb, Yvonne, Gregory, Helen, McWilliam, Catherine, Cooper, Anneli, Adam, Berit, McGhie, Josephine, Hamilton, Graham, Herzyk, Pawel, Tschannen, Michael R., Worthey, Elizabeth, Petty, Richard, Ballantyne, Bob, Warner, Jon, Farrugia, Maria Elena, Longman, Cheryl, Monckton, Darren G.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2018
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6189127/
https://ncbi.nlm.nih.gov/pubmed/29967337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0156-9
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak