ALS Compendium

Title: Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

Year Published: 2012

Observation: The duration of the disease was significantly longer in the Swedish cohort with homozygous deletions of SMN2 when compared with the French cohort.

Comment: suggest that SMN2 gene copy number might have different effects on ALS progression in disparate human populations.

Citation: Corcia, P., Ingre, C., Blasco, H., Press, R., Praline, J., Antar, C., … Andres, C. R. (2012). Homozygous SMN2 deletion is a protective factor in the Swedish ALS population. European Journal of Human Genetics : EJHG, 20(5), 588–91. doi:10.1038/ejhg.2011.255

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