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The Genetics of C9orf72 Expansions
Repeat expansions in the promoter region of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and related disorders of the ALS/frontotemporal lobar degeneration (FTLD) spectrum. Remarkable clinical heterogeneity among patients with a repeat expansion has been observed,...
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| Publicado no: | Cold Spring Harb Perspect Med |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5880162/ https://ncbi.nlm.nih.gov/pubmed/28130313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a026757 |
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