%0 Journal Article
%T Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0027-5
%X Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the GALC gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11¨C12, in three patients using Multiplex Ligation-dependent Probe Amplification. We suggest that some patients in whom no or only a single pathogenic mutation is detected by Sanger sequencing may have exon deletions
%U https://www.nature.com/articles/s41439-018-0027-5