N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
Williams, Monique, Burlina, Alberto, Rubert, Laura, Polo, Giulia, Ruijter, George J. G., van den Born, Myrthe, Rüfenacht, Véronique, Haskins, Nantaporn, van Zutven, Laura J. C. M., Tuchman, Mendel, SaТом:
8
Мова:
english
Журнал:
Scientific Reports
DOI:
10.1038/s41598-018-33457-0
Date:
December, 2018
Файл:
PDF, 1.23 MB
english, 2018