Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide repeat expansion on chromosome 19q13.3. While DM1 premutation (36–50 repeats) and protomutation (51–80 repeats) allele carriers are mostly asymptomatic, offspring is at risk of inheriting expanded, symptom-associated, (CTG)n repeats of...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Joosten, Isis B. T., Hellebrekers, Debby M. E. I., de Greef, Bianca T. A., Smeets, Hubert J. M., de Die-Smulders, Christine E. M., Faber, Catharina G., Gerrits, Monique M.
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7316980/
https://ncbi.nlm.nih.gov/pubmed/32203199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0601-4
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