Loss of UGP2 in brain leads to a severe epileptic...

Acta Neuropathologica 2019 / 12

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

Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrna
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Journal:
Acta Neuropathologica
DOI:
10.1007/s00401-019-02109-6
Date:
December, 2019
File:
PDF, 17.51 MB
2019
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