Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing

Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be difficult to detect by molecular tools. Methodological advances have made repeat expansion (RE) detection with whole genome sequencing (WGS) feasible. We recruited a multi-...

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Detalles Bibliográficos
Autores principales: Rafehi, Haloom, Green, Cherie, Bozaoglu, Kiymet, Gillies, Greta, Delatycki, Martin B., Lockhart, Paul J., Scheffer, Ingrid E., Bahlo, Melanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9823003/
https://www.ncbi.nlm.nih.gov/pubmed/35945246
http://dx.doi.org/10.1038/s41431-022-01166-y

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