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Intermediate C9orf72 alleles in neurological disorders: does size really matter?

C9orf72 repeat expansions is a major cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. Sizes of <20 hexanucleotide repeats are observed in controls, while up to thousands associate with disease. Intermediate C9orf72 repeat lengths, however, remain...

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Detalles Bibliográficos
Autores principales: Ng, Adeline S L, Tan, Eng-King
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574395/
https://www.ncbi.nlm.nih.gov/pubmed/28689190
http://dx.doi.org/10.1136/jmedgenet-2017-104752