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)

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