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.

Amna AL-Futaisi

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.

Child Health

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Acta Neuropathologica
Publication status	Published - 2019

Cite this

@article{439e40b056b240d6984afd844951fa9f,

title = "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.",

author = "Amna AL-Futaisi",

year = "2019",

language = "English",

journal = "Acta Neuropathologica",

issn = "0001-6322",

publisher = "Springer Verlag",

}