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Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type.
J Hum Genet. 2018 Jun;63(6):699-706. doi: 10.1038/s10038-018-0445-8. Epub 2018 Apr 3.
J Hum Genet. 2018.
PMID: 29615819
Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients.
Irahara-Miyana K, Enokizono T, Ozono K, Sakai N.
Irahara-Miyana K, et al.
Hum Genome Var. 2018 Oct 5;5:28. doi: 10.1038/s41439-018-0027-5. eCollection 2018.
Hum Genome Var. 2018.
PMID: 30323943
Free PMC article.
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