Age-related penetrance of the C9orf72 repeat expansion

Age-related penetrance of the C9orf72 repeat expansion

Abstract 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 dev...

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Autores principales: Natalie A. Murphy, Karissa C. Arthur, Pentti J. Tienari, Henry Houlden, Adriano Chiò, Bryan J. Traynor
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/c16f885d26e849e1b7ccd204b86e2ac3
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