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Article

The Genetics of C9orf72 Expansions.

Cold Spring Harbor perspectives in medicine - 2 Apr 2018

Gijselinck Ilse, Cruts Marc, Van Broeckhoven Christine

Abstract excerpt

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, and genetic anticipation over different generations has been suggested. Genetic factors modifying the clinical...

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Identifiers

PMID: 28130313
DOI: 10.1101/cshperspect.a026757
PMCID: PMC5880162

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