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Article

ALS2/Alsin Knockout Mice and Motor Neuron Diseases

1 Jan 2008

Abstract excerpt

Autosomal recessive mutations in the ALS2 gene have been linked to juvenile-onset amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis and juvenile-onset ascending hereditary spastic paraplegia. Except for two recently identified missense mutations, all other mutations in the ALS2 gene lead to a premature stop codon and likely abrogate all the potential functions of alsin, the protein encoded by the...

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PMID: 18714162
DOI: 10.1159/000151295

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