N-acetylglutamate synthase deficiency due to a recurrent sequence variant in the n-acetylglutamate synthase enhancer region

HIGHLIGHTS

• who: Monique Williams from the All methods were performed in accordance with the relevant guidelines and regulations of the participating institutionsMutation analysis was conducted with the approval of the Institutional Review Boards of the Erasmus Medical Center of the Sophia Children's Hospital and the University Hospital of the University of Padua. Informed consent was obtained either from all study subjects or their parents/guardians. have published the paper: N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region, in the Journal: (JOURNAL) of 13/04/2018

SUMMARY . . .

 

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