Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. (2020)
Attributed to:
MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1007/s00401-019-02109-6
PubMed Identifier: 31820119
Publication URI: http://europepmc.org/abstract/MED/31820119
Type: Journal Article/Review
Volume: 139
Parent Publication: Acta neuropathologica
Issue: 3
ISSN: 0001-6322