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Article

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.

Journal of human genetics - 1 Mar 2011

Belzil Véronique V, St-Onge Judith, Daoud Hussein, Desjarlais Anne, Bouchard Jean-Pierre, Dupré Nicolas, Camu William, Dion Patrick A, Rouleau Guy A

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease characterized by the degeneration of upper and lower motor neurons. Genetic studies have led, thus far, to the identification of 12 loci and 9 genes for familial ALS (FALS). Although the distribution and impact of superoxide dismutase 1 mutations has been extensively examined for over a decade, the recently identified FALS-associated FUS...

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Alleles
Amyotrophic Lateral Sclerosis
Base Sequence
Exons
Gene Order

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA-Binding Protein FUS

Source

Identifiers

PMID: 21160488
DOI: 10.1038/jhg.2010.162

Genes

FUS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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