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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Detalles Bibliográficos
Autores principales: Murphy, Natalie A., Arthur, Karissa C., Tienari, Pentti J., Houlden, Henry, Chiò, Adriano, Traynor, Bryan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437033/
https://www.ncbi.nlm.nih.gov/pubmed/28522837
http://dx.doi.org/10.1038/s41598-017-02364-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437033/
https://www.ncbi.nlm.nih.gov/pubmed/28522837
http://dx.doi.org/10.1038/s41598-017-02364-1

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