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N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Monique Williams,Alberto Burlina,Laura Rubert,Giulia Polo,George J. G. Ruijter,Myrthe van den Born,Véronique Rüfenacht,Nantaporn Haskins,Laura J. C. M. van Zutven,Mendel Tuchman,Jasper J. Saris,Johannes Häberle,Ljubica Caldovic

Scientific Reports（2018）

引用 8|浏览39
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关键词
Gene NAG1,Carbamyl Phosphate Synthetase (CPS1),Partial UPD,Hyperammonemia,Urea Cycle Disorders
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