Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases

To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology: No-Amp sequencing. In our cross-sectional study,...

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Detalles Bibliográficos
Autores principales: DeJesus-Hernandez, Mariely, Aleff, Ross A, Jackson, Jazmyne L, Finch, NiCole A, Baker, Matthew C, Gendron, Tania F, Murray, Melissa E, McLaughlin, Ian J, Harting, John R, Graff-Radford, Neill R, Oskarsson, Björn, Knopman, David S, Josephs, Keith A, Boeve, Bradley F, Petersen, Ronald C, Fryer, John D, Petrucelli, Leonard, Dickson, Dennis W, Rademakers, Rosa, Ebbert, Mark T W, Wieben, Eric D, van Blitterswijk, Marka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105038/
https://www.ncbi.nlm.nih.gov/pubmed/33889947
http://dx.doi.org/10.1093/brain/awab006

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