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

نتاج البحث: المساهمة في مجلة › Article › مراجعة النظراء

اللغة الأصلية	English
دورية	Acta Neuropathologica
حالة النشر	Published - 2019

قم بذكر هذا

@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",

}