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Age-related penetrance of the C9orf72 repeat expansion

A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation is known to have incomplete penetrance, with some patients developing d...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Murphy, Natalie A., Arthur, Karissa C., Tienari, Pentti J., Houlden, Henry, Chiò, Adriano, Traynor, Bryan J.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5437033/
https://ncbi.nlm.nih.gov/pubmed/28522837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02364-1
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