Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells

CTG expansions in DMPK gene, causing myotonic dystrophy type 1 (DM1), are characterized by pronounced somatic instability. A large proportion of variability of somatic instability is explained by expansion size and patient’s age at sampling, while individual-specific differences are attributed to ad...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Pešović, Jovan, Perić, Stojan, Brkušanin, Miloš, Brajušković, Goran, Rakočević-Stojanović, Vidosava, Savić-Pavićević, Dušanka
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6278776/
https://ncbi.nlm.nih.gov/pubmed/30546383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00601
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