ALS Compendium

Title: Homozygosity analysis in amyotrophic lateral sclerosis

Year Published: 2013

Observation: 3 regions of homozygosity were found associated with ALS (chr 21, 1 and 5). No associations were found in TDP43, ANG, FUS, CHMP2B, VCP and C9ORF72 regions

Comment: Excess homozygosity on Chr 21, 1 and 5 implies that pathogenic mutatons may be located in this regions

Citation: Mok, K., Laaksovirta, H., Tienari, P. J., Peuralinna, T., Myllykangas, L., Chio, A., … Orrell, R. W. (2013). Homozygosity analysis in amyotrophic lateral sclerosis, (April), 1429–1435. doi:10.1038/ejhg.2013.59

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