Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis

In conclusion, we identified two pathogenic splice-site variants inKIF5A in the probands in two Japanese families with FALS, which altered the C-terminal region of KIF5A. Our findings broaden the phenotype spectrum of ALS associated with variants inKIF5A in the Japanese series.

http://link.springer.com/10.1007/s10048-020-00626-1

Source: Neurogenetics - August 18, 2020 Category: Genetics & Stem Cells Source Type: research