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Characterization of C9orf72 haplotypes to evaluate the effects of normal and pathological variations on its expression and splicing

Expansion of the hexanucleotide repeat (HR) in the first intron of the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Caucasians. All C9orf72-ALS/FTD patients share a common risk (R) haplotype. To study C9orf72 expression and...

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Detalles Bibliográficos
Autores principales:	Ben-Dor, Israel, Pacut, Crystal, Nevo, Yuval, Feldman, Eva L., Reubinoff, Benjamin E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8031855/ https://www.ncbi.nlm.nih.gov/pubmed/33780440 http://dx.doi.org/10.1371/journal.pgen.1009445

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