N-Acetylglutamate Synthase Deficiency Due to a Recurrent...

Scientific Reports 2018 / 12 Vol. 8; Iss. 1

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, Sa
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Volume:
8
Language:
english
Journal:
Scientific Reports
DOI:
10.1038/s41598-018-33457-0
Date:
December, 2018
File:
PDF, 1.23 MB
english, 2018
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