Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Kaori Irahara-Miyana, Takashi Enokizono, Keiichi Ozono, Norio Sakai

ABSTRACT

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 11-12, 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. More... »

PAGES

28

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0027-5

DOI

http://dx.doi.org/10.1038/s41439-018-0027-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107396885

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30323943


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